nsv3914895
- 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:85,074
- Description:GRCh38/hg38 3q12.3(chr3:102481295-102566368)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: 237 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914895 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 102,481,295 | 102,566,368 |
| nsv3914895 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 102,200,139 | 102,285,212 |
| nsv3914895 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 103,682,829 | 103,767,902 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120040 | copy number gain | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000134258.3, VCV000144854.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120040 | Submitted genomic | NC_000003.12:g.(?_ 102481295)_(102566 368_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 102,481,295 | 102,566,368 |
| nssv15120040 | Submitted genomic | NC_000003.11:g.(?_ 102200139)_(102285 212_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 102,200,139 | 102,285,212 |
| nssv15120040 | Submitted genomic | NC_000003.10:g.(?_ 103682829)_(103767 902_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 103,682,829 | 103,767,902 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120040 | GRCh37: NC_000003.11:g.(?_102200139)_(102285212_?)dup, GRCh38: NC_000003.12:g.(?_102481295)_(102566368_?)dup, NCBI36: NC_000003.10:g.(?_103682829)_(103767902_?)dup | copy number gain | not provided | See cases | conflicting data from submitters | ClinVar | RCV000134258.3, VCV000144854.1 | 3 |