nsv4369128
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:35
- Validation:Not tested
- Clinical Assertions: No
- Region Size:49,951
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1513 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1513 SVs from 88 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4369128 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nsv4369128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15613898 | copy number gain | 1-0708-003 | SNP array | Genotyping | 22 |
nssv15616356 | copy number gain | 1-0819-003 | SNP array | Genotyping | 16 |
nssv15617140 | copy number gain | 1-0764-003 | SNP array | Genotyping | 30 |
nssv15619883 | copy number gain | 1-0912-001 | SNP array | Genotyping | 28 |
nssv15621366 | copy number gain | 1-1015-001 | SNP array | Genotyping | 21 |
nssv15654927 | copy number gain | 2-1631-003 | SNP array | Genotyping | 21 |
nssv15656771 | copy number gain | 3-0600-000 | SNP array | Genotyping | 23 |
nssv15659435 | copy number gain | 3-0731-000 | SNP array | Genotyping | 18 |
nssv15665536 | copy number gain | 7-0098-003 | SNP array | Genotyping | 18 |
nssv15670317 | copy number gain | 7-0292-004 | SNP array | Genotyping | 13 |
nssv15681499 | copy number loss | OCD108-1634 | SNP array | Genotyping | 19 |
nssv15682383 | copy number gain | OCD110-S_1652 | SNP array | Genotyping | 26 |
nssv15682840 | copy number gain | OCD1156-S_HAM543 | SNP array | Genotyping | 13 |
nssv15683480 | copy number gain | OCD124-B_188609 | SNP array | Genotyping | 22 |
nssv15683806 | copy number gain | OCD13-S_896242 | SNP array | Genotyping | 29 |
nssv15685042 | copy number loss | OCD158-KA-1463 | SNP array | Genotyping | 26 |
nssv15685314 | copy number gain | OCD117-B_1699 | SNP array | Genotyping | 29 |
nssv15685406 | copy number gain | OCD119-B_1726 | SNP array | Genotyping | 23 |
nssv15685456 | copy number gain | OCD12-S_896222 | SNP array | Genotyping | 30 |
nssv15685485 | copy number loss | OCD127-896972 | SNP array | Genotyping | 23 |
nssv15686287 | copy number loss | OCD3-S_896083 | SNP array | Genotyping | 27 |
nssv15686330 | copy number gain | OCD129-8961042 | SNP array | Genotyping | 23 |
nssv15686974 | copy number loss | OCD38-S_0625-1127-1 | SNP array | Genotyping | 27 |
nssv15687011 | copy number loss | OCD38-S_0625-1127-3 | SNP array | Genotyping | 22 |
nssv15687288 | copy number loss | OCD4-S_896093 | SNP array | Genotyping | 26 |
nssv15687541 | copy number loss | OCD163-896471 | SNP array | Genotyping | 25 |
nssv15689395 | copy number loss | OCD1002-S_896873 | SNP array | Genotyping | 20 |
nssv15690029 | copy number gain | OCD1163-0625-7948-2 | SNP array | Genotyping | 22 |
nssv15691701 | copy number gain | OCD75-SB-1213 | SNP array | Genotyping | 18 |
nssv15691799 | copy number gain | OCD8-S_896143 | SNP array | Genotyping | 27 |
nssv15692431 | copy number gain | OCD61-PC-1273 | SNP array | Genotyping | 26 |
nssv15693164 | copy number loss | OCD87-896882 | SNP array | Genotyping | 20 |
nssv15693521 | copy number loss | OCD71-896303 | SNP array | Genotyping | 19 |
nssv15693896 | copy number loss | OCD95-1055 | SNP array | Genotyping | 21 |
nssv15694242 | copy number gain | OCD83-896813 | SNP array | Genotyping | 27 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15613898 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15616356 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15617140 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15619883 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15621366 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15654927 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15656771 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15659435 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15665536 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15670317 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15681499 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15682383 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15682840 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15683480 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15683806 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15685042 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15685314 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15685406 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15685456 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15685485 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15686287 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15686330 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15686974 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15687011 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15687288 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15687541 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15689395 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15690029 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15691701 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15691799 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15692431 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15693164 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15693521 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15693896 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15694242 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6862012 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,620,121 |
nssv15613898 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15616356 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15617140 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15619883 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15621366 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15654927 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15656771 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15659435 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15665536 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15670317 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15681499 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15682383 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15682840 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15683480 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15683806 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15685042 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15685314 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15685406 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15685456 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15685485 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15686287 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15686330 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15686974 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15687011 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15687288 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15687541 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15689395 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15690029 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15691701 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15691799 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15692431 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15693164 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15693521 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15693896 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 | ||
nssv15694242 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6948583 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,485,839 |