nsv3162017
- 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:43,672
- Description:qual score = 99
- 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: 278 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3162017 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 38,905,012 | 38,948,683 |
| nsv3162017 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_014040929.1 | Chr19|NW_0 14040929.1 | 314,684 | 358,355 |
| nsv3162017 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 39,395,652 | 39,439,323 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14223586 | copy number gain | Sequencing | Read depth |
| nssv14223587 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14223586 | Remapped | Perfect | NW_014040929.1:g.( ?_314684)_(358355_ ?)dup | GRCh38.p12 | Second Pass | NW_014040929.1 | Chr19|NW_0 14040929.1 | 314,684 | 358,355 |
| nssv14223587 | Remapped | Perfect | NW_014040929.1:g.( ?_314684)_(358355_ ?)dup | GRCh38.p12 | Second Pass | NW_014040929.1 | Chr19|NW_0 14040929.1 | 314,684 | 358,355 |
| nssv14223586 | Remapped | Perfect | NC_000019.10:g.(?_ 38905012)_(3894868 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 38,905,012 | 38,948,683 |
| nssv14223587 | Remapped | Perfect | NC_000019.10:g.(?_ 38905012)_(3894868 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 38,905,012 | 38,948,683 |
| nssv14223586 | Submitted genomic | NC_000019.9:g.(?_3 9395652)_(39439323 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 39,395,652 | 39,439,323 | ||
| nssv14223587 | Submitted genomic | NC_000019.9:g.(?_3 9395652)_(39439323 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 39,395,652 | 39,439,323 |