nsv6310678
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,958,101
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV001958271.8
- ClinVar: RCV001958273.8
- ClinVar: RCV001992607.8
- ClinVar: RCV003120769.7
- ClinVar: VCV001445481.31
- MONDO: 0008855
- MONDO: 0012548
- MONDO: 0014118
- MONDO: 0014710
- MeSH: C537079
- MedGen: C2931418
- MedGen: C3809031
- MedGen: C5235141
- MedGen: C5567647
- OMIM: 209920
- OMIM: 610738
- OMIM: 615285
- OMIM: 616622
- Orphanet: 369852
- Orphanet: 572
- Orphanet: 99749
- Overlapping Genes
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: 19818 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 19829 SVs from 129 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6310678 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 149,923,542 | 156,881,642 |
nsv6310678 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 149,895,434 | 156,851,434 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17971628 | Remapped | Good | NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 149,923,542 | 156,881,642 |
nssv17971630 | Remapped | Good | NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 149,923,542 | 156,881,642 |
nssv17972909 | Remapped | Good | NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 149,923,542 | 156,881,642 |
nssv18787093 | Remapped | Good | NC_000001.11:g.(?_ 149923542)_(156881 642_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 149,923,542 | 156,881,642 |
nssv17971628 | Submitted genomic | NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 149,895,434 | 156,851,434 | ||
nssv17971630 | Submitted genomic | NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 149,895,434 | 156,851,434 | ||
nssv17972909 | Submitted genomic | NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 149,895,434 | 156,851,434 | ||
nssv18787093 | Submitted genomic | NC_000001.10:g.(?_ 149895434)_(156851 434_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 149,895,434 | 156,851,434 |