nsv3895052
- 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:1,293,740
- Description:
GRCh38/hg38 2p12(chr2:79680727-80974466)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: 2979 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2979 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 755 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 |
|---|---|---|---|---|---|---|---|
| nsv3895052 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 79,680,727 | 80,974,466 |
| nsv3895052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 79,907,853 | 81,201,590 |
| nsv3895052 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 79,761,361 | 81,055,101 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133915 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000135457.4, VCV000146134.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133915 | Submitted genomic | NC_000002.12:g.(?_ 79680727)_(8097446 6_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 79,680,727 | 80,974,466 |
| nssv15133915 | Submitted genomic | NC_000002.11:g.(?_ 79907853)_(8120159 0_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 79,907,853 | 81,201,590 |
| nssv15133915 | Submitted genomic | NC_000002.10:g.(?_ 79761361)_(8105510 1_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 79,761,361 | 81,055,101 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133915 | GRCh37: NC_000002.11:g.(?_79907853)_(81201590_?)dup, GRCh38: NC_000002.12:g.(?_79680727)_(80974466_?)dup, NCBI36: NC_000002.10:g.(?_79761361)_(81055101_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000135457.4, VCV000146134.2 | 3 |