nsv3924656
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,155,422
- Description:GRCh38/hg38 7p14.1-13(chr7:42452844-43608265)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3009 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 3009 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 887 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924656 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 42,452,844 | 43,608,265 |
| nsv3924656 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 42,492,443 | 43,647,864 |
| nsv3924656 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 42,458,968 | 43,614,389 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137630 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000139756.4, VCV000150967.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137630 | Submitted genomic | NC_000007.14:g.(?_ 42452844)_(4360826 5_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 42,452,844 | 43,608,265 |
| nssv15137630 | Submitted genomic | NC_000007.13:g.(?_ 42492443)_(4364786 4_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 42,492,443 | 43,647,864 |
| nssv15137630 | Submitted genomic | NC_000007.12:g.(?_ 42458968)_(4361438 9_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 42,458,968 | 43,614,389 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137630 | GRCh37: NC_000007.13:g.(?_42492443)_(43647864_?)dup, GRCh38: NC_000007.14:g.(?_42452844)_(43608265_?)dup, NCBI36: NC_000007.12:g.(?_42458968)_(43614389_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000139756.4, VCV000150967.2 | 3 |