nsv4386452
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,269
- Publication(s):Zarrei et al. 2019
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: 1191 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 858 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1028 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1164 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386452 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,119,736 | 36,150,004 |
| nsv4386452 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187661.1 | Chr17|NT_1 87661.1 | 73,833 | 104,101 |
| nsv4386452 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 354,654 | 384,914 |
| nsv4386452 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,447,126 | 34,477,386 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15631488 | copy number gain | 1-0628-003 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15631488 | Remapped | Good | NT_187661.1:g.(?_7 3833)_(104101_?)du p | GRCh38.p12 | Second Pass | NT_187661.1 | Chr17|NT_1 87661.1 | 73,833 | 104,101 |
| nssv15631488 | Remapped | Perfect | NT_187614.1:g.(?_3 54654)_(384914_?)d up | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 354,654 | 384,914 |
| nssv15631488 | Remapped | Good | NC_000017.11:g.(?_ 36119736)_(3615000 4_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,119,736 | 36,150,004 |
| nssv15631488 | Submitted genomic | NC_000017.10:g.(?_ 34447126)_(3447738 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,447,126 | 34,477,386 |