nsv6628680
- 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:23,609
- 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: 153 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628680 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 11,875,765 | 11,899,373 |
| nsv6628680 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871060.2 | Chr3|NW_00 3871060.2 | 87,125 | 110,717 |
| nsv6628680 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 11,917,239 | 11,940,847 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18291182 | duplication | OSC3588 | SNP array | Probe signal intensity | nssv18290304, nssv18290881, nssv18291181 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18291182 | Remapped | Good | NW_003871060.2:g.( ?_87125)_(110717_? )dup | GRCh38.p12 | Second Pass | NW_003871060.2 | Chr3|NW_00 3871060.2 | 87,125 | 110,717 |
| nssv18291182 | Remapped | Perfect | NC_000003.12:g.(?_ 11875765)_(1189937 3_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 11,875,765 | 11,899,373 |
| nssv18291182 | Submitted genomic | NC_000003.11:g.(?_ 11917239)_(1194084 7_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 11,917,239 | 11,940,847 |