nsv3917346
- 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:706,975
- Description:GRCh38/hg38 12q13.13(chr12:52851850-53558824)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: 2522 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2522 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917346 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 52,851,850 | 53,558,824 |
| nsv3917346 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 53,245,634 | 53,952,608 |
| nsv3917346 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 51,531,901 | 52,238,875 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147395 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000138030.4, VCV000148968.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147395 | Submitted genomic | NC_000012.12:g.(?_ 52851850)_(5355882 4_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 52,851,850 | 53,558,824 |
| nssv15147395 | Submitted genomic | NC_000012.11:g.(?_ 53245634)_(5395260 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 53,245,634 | 53,952,608 |
| nssv15147395 | Submitted genomic | NC_000012.10:g.(?_ 51531901)_(5223887 5_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 51,531,901 | 52,238,875 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147395 | GRCh37: NC_000012.11:g.(?_53245634)_(53952608_?)dup, GRCh38: NC_000012.12:g.(?_52851850)_(53558824_?)dup, NCBI36: NC_000012.10:g.(?_51531901)_(52238875_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000138030.4, VCV000148968.2 | 3 |