nsv4684416
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,433,856
- Publication(s):Smajlagic et al. 2020
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: 4409 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3797 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 4764 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684416 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,459,736 | 37,889,808 |
| nsv4684416 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,640 | 2,128,495 |
| nsv4684416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,815,550 | 36,249,430 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215343 | duplication | mb1:o51 | SNP array | SNP genotyping analysis |
| nssv16215385 | deletion | mb1:o49 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215343 | Remapped | Good | NT_187614.1:g.(?_6 94640)_(2128495_?) dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,640 | 2,128,495 |
| nssv16215385 | Remapped | Good | NT_187614.1:g.(?_6 94640)_(2128495_?) del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,640 | 2,128,495 |
| nssv16215343 | Remapped | Good | NC_000017.11:g.(?_ 36459736)_(3788980 8_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,459,736 | 37,889,808 |
| nssv16215385 | Remapped | Good | NC_000017.11:g.(?_ 36459736)_(3788980 8_?)del | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,459,736 | 37,889,808 |
| nssv16215343 | Submitted genomic | NC_000017.10:g.(?_ 34815550)_(3624943 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,550 | 36,249,430 | ||
| nssv16215385 | Submitted genomic | NC_000017.10:g.(?_ 34815550)_(3624943 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,550 | 36,249,430 |