nsv3911880
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:259,798
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1025 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1025 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911880 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 70,873,565 | 71,133,362 |
| nsv3911880 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 70,907,468 | 71,167,265 |
| nsv3911880 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 69,464,969 | 69,724,766 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136615 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000138852.4, VCV000149910.2 | 3 |
| nssv15136884 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000138853.4, VCV000149911.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136615 | Submitted genomic | NC_000016.10:g.(?_ 70873565)_(7113336 2_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 70,873,565 | 71,133,362 |
| nssv15136884 | Submitted genomic | NC_000016.10:g.(?_ 70873565)_(7113336 2_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 70,873,565 | 71,133,362 |
| nssv15136615 | Submitted genomic | NC_000016.9:g.(?_7 0907468)_(71167265 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,907,468 | 71,167,265 |
| nssv15136884 | Submitted genomic | NC_000016.9:g.(?_7 0907468)_(71167265 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,907,468 | 71,167,265 |
| nssv15136615 | Submitted genomic | NC_000016.8:g.(?_6 9464969)_(69724766 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 69,464,969 | 69,724,766 |
| nssv15136884 | Submitted genomic | NC_000016.8:g.(?_6 9464969)_(69724766 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 69,464,969 | 69,724,766 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136615 | GRCh37: NC_000016.9:g.(?_70907468)_(71167265_?)dup, GRCh38: NC_000016.10:g.(?_70873565)_(71133362_?)dup, NCBI36: NC_000016.8:g.(?_69464969)_(69724766_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000138852.4, VCV000149910.2 | 3 |
| nssv15136884 | GRCh37: NC_000016.9:g.(?_70907468)_(71167265_?)del, GRCh38: NC_000016.10:g.(?_70873565)_(71133362_?)del, NCBI36: NC_000016.8:g.(?_69464969)_(69724766_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000138853.4, VCV000149911.2 | 1 |