nsv3899116
- 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:5,036,630
- Description:GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)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: 13027 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 13028 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 3444 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899116 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 225,382,172 | 230,418,801 |
| nsv3899116 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 225,569,874 | 230,554,547 |
| nsv3899116 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 223,636,497 | 228,621,170 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146761 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143223.4, VCV000155156.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146761 | Submitted genomic | NC_000001.11:g.(?_ 225382172)_(230418 801_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 225,382,172 | 230,418,801 |
| nssv15146761 | Submitted genomic | NC_000001.10:g.(?_ 225569874)_(230554 547_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,569,874 | 230,554,547 |
| nssv15146761 | Submitted genomic | NC_000001.9:g.(?_2 23636497)_(2286211 70_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 223,636,497 | 228,621,170 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146761 | GRCh37: NC_000001.10:g.(?_225569874)_(230554547_?)del, GRCh38: NC_000001.11:g.(?_225382172)_(230418801_?)del, NCBI36: NC_000001.9:g.(?_223636497)_(228621170_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143223.4, VCV000155156.2 | 1 |