nsv3923963
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:132,084,260
- Description:NCBI36/hg18 2q13-37.3(chr2:110190938-110340746)x1 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: 329667 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 329781 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 87470 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3923963 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 110,076,072 | 242,160,331 | 242,160,331 |
| nsv3923963 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 110,833,649 | 243,102,476 | 243,102,476 |
| nsv3923963 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 110,190,938 | 110,340,746 | 242,751,149 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15126080 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000451167.2, VCV000402046.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15126080 | Remapped | Good | NC_000002.12:g.(?_ 110076072)_(242160 331_242160331)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,076,072 | 242,160,331 | 242,160,331 |
| nssv15126080 | Remapped | Good | NC_000002.11:g.(?_ 110833649)_(243102 476_243102476)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,833,649 | 243,102,476 | 243,102,476 |
| nssv15126080 | Submitted genomic | NC_000002.10:g.(?_ 110190938)_(110340 746_242751149)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,190,938 | 110,340,746 | 242,751,149 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15126080 | NCBI36: NC_000002.10:g.(?_110190938)_(110340746_242751149)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000451167.2, VCV000402046.2 | 1 |