nsv4368304
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,616
- 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: 693 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 693 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4368304 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nsv4368304 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15634672 | copy number gain | 12-4310-006 | SNP array | Genotyping | 18 |
| nssv15643321 | copy number gain | 14-0364-002 | SNP array | Genotyping | 12 |
| nssv15643930 | copy number gain | 16-1007-002 | SNP array | Genotyping | 21 |
| nssv15646658 | copy number gain | 2-1272-003 | SNP array | Genotyping | 15 |
| nssv15646784 | copy number gain | 2-1085-004 | SNP array | Genotyping | 20 |
| nssv15651251 | copy number loss | 2-1369-002 | SNP array | Genotyping | 14 |
| nssv15651471 | copy number gain | 2-1437-002 | SNP array | Genotyping | 17 |
| nssv15651516 | copy number gain | 2-1437-004 | SNP array | Genotyping | 28 |
| nssv15661884 | copy number gain | 4-0043-001 | SNP array | Genotyping | 18 |
| nssv15661970 | copy number gain | 5-0071-001 | SNP array | Genotyping | 26 |
| nssv15676910 | copy number loss | 183433 | SNP array | Genotyping | 27 |
| nssv15690654 | copy number loss | OCD159-CP-1440 | SNP array | Genotyping | 28 |
| nssv15690875 | copy number loss | OCD170-TJ-1809 | SNP array | Genotyping | 25 |
| nssv15699150 | copy number gain | 201955 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15634672 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15643321 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15643930 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15646658 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15646784 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15651251 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15651471 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15651516 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15661884 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15661970 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15676910 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15690654 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15690875 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15699150 | Remapped | Perfect | NC_000006.12:g.(?_ 103290334)_(103311 949_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,290,334 | 103,311,949 |
| nssv15634672 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15643321 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15643930 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15646658 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15646784 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15651251 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15651471 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15651516 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15661884 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15661970 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15676910 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15690654 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15690875 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 | ||
| nssv15699150 | Submitted genomic | NC_000006.11:g.(?_ 103738209)_(103759 824_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,738,209 | 103,759,824 |