nsv3910335
- 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:595,623
- Description:GRCh38/hg38 16p13.13(chr16:10778551-11374173)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: 1628 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1628 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910335 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 10,778,551 | 11,374,173 |
| nsv3910335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 10,872,408 | 11,468,030 |
| nsv3910335 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 10,779,909 | 11,375,531 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135695 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000137607.4, VCV000148534.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135695 | Submitted genomic | NC_000016.10:g.(?_ 10778551)_(1137417 3_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 10,778,551 | 11,374,173 |
| nssv15135695 | Submitted genomic | NC_000016.9:g.(?_1 0872408)_(11468030 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 10,872,408 | 11,468,030 |
| nssv15135695 | Submitted genomic | NC_000016.8:g.(?_1 0779909)_(11375531 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 10,779,909 | 11,375,531 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135695 | GRCh37: NC_000016.9:g.(?_10872408)_(11468030_?)dup, GRCh38: NC_000016.10:g.(?_10778551)_(11374173_?)dup, NCBI36: NC_000016.8:g.(?_10779909)_(11375531_?)dup | copy number gain | paternal | See cases | Likely benign | ClinVar | RCV000137607.4, VCV000148534.2 | 3 |