nsv3150230
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:242,641
- Description:
See descriptions for individual calls in download files - Publication(s):Exome Aggregation Consortium CNVs
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2146 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2146 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3150230 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,379,149 | 66,621,789 |
| nsv3150230 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,138,907 | 68,381,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14176955 | copy number loss | Sequencing | Read depth |
| nssv14176956 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14176955 | Remapped | Perfect | NC_000010.11:g.(?_ 66379149)_(6662178 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,379,149 | 66,621,789 |
| nssv14176956 | Remapped | Perfect | NC_000010.11:g.(?_ 66379149)_(6662178 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,379,149 | 66,621,789 |
| nssv14176955 | Submitted genomic | NC_000010.10:g.(?_ 68138907)_(6838154 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,138,907 | 68,381,547 | ||
| nssv14176956 | Submitted genomic | NC_000010.10:g.(?_ 68138907)_(6838154 7_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,138,907 | 68,381,547 |