nsv6625241
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,006
- Publication(s):Zarrei et al. 2023
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: 977 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 853 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 817 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 851 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 892 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625241 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,217,138 | 54,233,134 |
| nsv6625241 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 192,121 | 208,124 |
| nsv6625241 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 192,124 | 208,123 |
| nsv6625241 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 191,938 | 207,943 |
| nsv6625241 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,721,007 | 54,737,010 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290880 | duplication | OSC3587 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290880 | Remapped | Perfect | NT_187693.1:g.(?_1 92121)_(208124_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 192,121 | 208,124 |
| nssv18290880 | Remapped | Good | NW_003571060.1:g.( ?_192124)_(208123_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 192,124 | 208,123 |
| nssv18290880 | Remapped | Good | NW_003571054.1:g.( ?_191938)_(207943_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 191,938 | 207,943 |
| nssv18290880 | Remapped | Good | NC_000019.10:g.(?_ 54217138)_(5423313 4_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,217,138 | 54,233,134 |
| nssv18290880 | Submitted genomic | NC_000019.9:g.(?_5 4721007)_(54737010 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,721,007 | 54,737,010 |