nsv6311365
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,880,717
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV001950955.3
- ClinVar: RCV001950956.5
- ClinVar: RCV003105677.2
- ClinVar: RCV003120780.2
- ClinVar: RCV003122553.2
- ClinVar: VCV001456057.8
- ClinVar: VCV002423982.3
- MONDO: 0011804
- MONDO: 0011864
- MONDO: 0014493
- MedGen: C1846545
- MedGen: C3149378
- MedGen: C4015214
- OMIM: 123890.0003
- OMIM: 123890.0004
- OMIM: 123890.0005
- OMIM: 123890.0006
- OMIM: 123890.0007
- OMIM: 123890.0008
- OMIM: 607271
- OMIM: 607594
- OMIM: 616100
- Orphanet: 1572
- Orphanet: 275517
- Orphanet: 436159
- 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: 7792 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 7792 SVs from 113 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6311365 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 201,078,883 | 203,959,599 |
nsv6311365 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 201,943,606 | 204,824,322 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17971077 | Remapped | Perfect | NC_000002.12:g.(?_ 201078883)_(203959 599_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,078,883 | 203,959,599 |
nssv17971078 | Remapped | Perfect | NC_000002.12:g.(?_ 201078883)_(203959 599_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,078,883 | 203,959,599 |
nssv18787098 | Remapped | Perfect | NC_000002.12:g.(?_ 201078883)_(203959 599_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,078,883 | 203,959,599 |
nssv18787555 | Remapped | Perfect | NC_000002.12:g.(?_ 201078883)_(203959 599_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,078,883 | 203,959,599 |
nssv18791770 | Remapped | Perfect | NC_000002.12:g.(?_ 201078883)_(203959 599_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,078,883 | 203,959,599 |
nssv17971077 | Submitted genomic | NC_000002.11:g.(?_ 201943606)_(204824 322_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 201,943,606 | 204,824,322 | ||
nssv17971078 | Submitted genomic | NC_000002.11:g.(?_ 201943606)_(204824 322_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 201,943,606 | 204,824,322 | ||
nssv18787098 | Submitted genomic | NC_000002.11:g.(?_ 201943606)_(204824 322_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 201,943,606 | 204,824,322 | ||
nssv18787555 | Submitted genomic | NC_000002.11:g.(?_ 201943606)_(204824 322_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 201,943,606 | 204,824,322 | ||
nssv18791770 | Submitted genomic | NC_000002.11:g.(?_ 201943606)_(204824 322_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 201,943,606 | 204,824,322 |