nsv3918692
- 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:50,574,674
- Description:GRCh38/hg38 3q24-29(chr3:147521892-198096565)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: 137171 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 137173 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 36032 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918692 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 147,521,892 | 198,096,565 |
| nsv3918692 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 147,239,679 | 197,823,436 |
| nsv3918692 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 148,722,369 | 199,307,833 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146977 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051725.6, VCV000057983.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146977 | Submitted genomic | NC_000003.12:g.(?_ 147521892)_(198096 565_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 147,521,892 | 198,096,565 |
| nssv15146977 | Submitted genomic | NC_000003.11:g.(?_ 147239679)_(197823 436_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 147,239,679 | 197,823,436 |
| nssv15146977 | Submitted genomic | NC_000003.10:g.(?_ 148722369)_(199307 833_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 148,722,369 | 199,307,833 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146977 | GRCh37: NC_000003.11:g.(?_147239679)_(197823436_?)dup, GRCh38: NC_000003.12:g.(?_147521892)_(198096565_?)dup, NCBI36: NC_000003.10:g.(?_148722369)_(199307833_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051725.6, VCV000057983.1 | 3 |