nsv3921061
- 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:76,516
- Description:GRCh38/hg38 13q31.3(chr13:91521052-91597567)x1 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: 314 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921061 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 91,521,052 | 91,597,567 |
| nsv3921061 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 92,173,306 | 92,249,821 |
| nsv3921061 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 90,971,307 | 91,047,822 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120898 | copy number loss | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134626.4, VCV000145224.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120898 | Submitted genomic | NC_000013.11:g.(?_ 91521052)_(9159756 7_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 91,521,052 | 91,597,567 |
| nssv15120898 | Submitted genomic | NC_000013.10:g.(?_ 92173306)_(9224982 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 92,173,306 | 92,249,821 |
| nssv15120898 | Submitted genomic | NC_000013.9:g.(?_9 0971307)_(91047822 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 90,971,307 | 91,047,822 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120898 | GRCh37: NC_000013.10:g.(?_92173306)_(92249821_?)del, GRCh38: NC_000013.11:g.(?_91521052)_(91597567_?)del, NCBI36: NC_000013.9:g.(?_90971307)_(91047822_?)del | copy number loss | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134626.4, VCV000145224.1 | 1 |