nsv3131302
- 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:1,187,085
- Description:qual score = 98
- 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: 2643 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2643 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3131302 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 44,797,831 | 45,984,915 |
| nsv3131302 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 44,839,323 | 46,026,407 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14129988 | copy number gain | Sequencing | Read depth |
| nssv14144952 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14129988 | Remapped | Perfect | NC_000003.12:g.(?_ 44797831)_(4598491 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 44,797,831 | 45,984,915 |
| nssv14144952 | Remapped | Perfect | NC_000003.12:g.(?_ 44797831)_(4598491 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 44,797,831 | 45,984,915 |
| nssv14129988 | Submitted genomic | NC_000003.11:g.(?_ 44839323)_(4602640 7_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 44,839,323 | 46,026,407 | ||
| nssv14144952 | Submitted genomic | NC_000003.11:g.(?_ 44839323)_(4602640 7_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 44,839,323 | 46,026,407 |