nsv4379129
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:184,705
- 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: 1368 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1368 SVs from 95 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4379129 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,665,653 | 136,850,357 |
nsv4379129 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,677,896 | 137,862,600 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15611568 | copy number loss | 1-0098-003 | SNP array | Genotyping | 27 |
nssv15616815 | copy number loss | 1-0807-003 | SNP array | Genotyping | 22 |
nssv15648219 | copy number loss | 2-1235-003 | SNP array | Genotyping | 16 |
nssv15664902 | copy number loss | 264923 | SNP array | Genotyping | 28 |
nssv15665074 | copy number loss | 14AG1958 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15611568 | Remapped | Perfect | NC_000008.11:g.(?_ 136665653)_(136850 357_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,665,653 | 136,850,357 |
nssv15616815 | Remapped | Perfect | NC_000008.11:g.(?_ 136665653)_(136850 357_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,665,653 | 136,850,357 |
nssv15648219 | Remapped | Perfect | NC_000008.11:g.(?_ 136665653)_(136850 357_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,665,653 | 136,850,357 |
nssv15664902 | Remapped | Perfect | NC_000008.11:g.(?_ 136665653)_(136850 357_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,665,653 | 136,850,357 |
nssv15665074 | Remapped | Perfect | NC_000008.11:g.(?_ 136665653)_(136850 357_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,665,653 | 136,850,357 |
nssv15611568 | Submitted genomic | NC_000008.10:g.(?_ 137677896)_(137862 600_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,677,896 | 137,862,600 | ||
nssv15616815 | Submitted genomic | NC_000008.10:g.(?_ 137677896)_(137862 600_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,677,896 | 137,862,600 | ||
nssv15648219 | Submitted genomic | NC_000008.10:g.(?_ 137677896)_(137862 600_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,677,896 | 137,862,600 | ||
nssv15664902 | Submitted genomic | NC_000008.10:g.(?_ 137677896)_(137862 600_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,677,896 | 137,862,600 | ||
nssv15665074 | Submitted genomic | NC_000008.10:g.(?_ 137677896)_(137862 600_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,677,896 | 137,862,600 |