nsv3900700
- 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:1,658,784
- Description:GRCh38/hg38 2p12-11.2(chr2:82224116-83882899)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: 3777 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3777 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 794 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 |
|---|---|---|---|---|---|---|---|
| nsv3900700 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 82,224,116 | 83,882,899 |
| nsv3900700 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 82,451,240 | 84,110,023 |
| nsv3900700 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 82,304,751 | 83,963,534 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134123 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000134904.4, VCV000145556.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134123 | Submitted genomic | NC_000002.12:g.(?_ 82224116)_(8388289 9_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 82,224,116 | 83,882,899 |
| nssv15134123 | Submitted genomic | NC_000002.11:g.(?_ 82451240)_(8411002 3_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 82,451,240 | 84,110,023 |
| nssv15134123 | Submitted genomic | NC_000002.10:g.(?_ 82304751)_(8396353 4_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 82,304,751 | 83,963,534 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134123 | GRCh37: NC_000002.11:g.(?_82451240)_(84110023_?)del, GRCh38: NC_000002.12:g.(?_82224116)_(83882899_?)del, NCBI36: NC_000002.10:g.(?_82304751)_(83963534_?)del | copy number loss | maternal | See cases | Likely benign | ClinVar | RCV000134904.4, VCV000145556.2 | 1 |