nsv3317200
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:122,089
- Publication(s):Frenkel 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: 3468 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1728 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 3033 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317200 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nsv3317200 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nsv3317200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468543 | copy number gain | M2163 | SNP array | SNP genotyping analysis | 14 |
| nssv14468973 | copy number gain | M2193 | SNP array | SNP genotyping analysis | 17 |
| nssv14469792 | copy number gain | M2269 | SNP array | SNP genotyping analysis | 19 |
| nssv14470697 | copy number gain | M2370 | SNP array | SNP genotyping analysis | 18 |
| nssv14470901 | copy number gain | M2391 | SNP array | SNP genotyping analysis | 18 |
| nssv14471055 | copy number gain | M2403 | SNP array | SNP genotyping analysis | 14 |
| nssv14471768 | copy number gain | M2492 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468543 | Remapped | Good | NT_187663.1:g.(?_7 91339)_(913427_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nssv14468973 | Remapped | Good | NT_187663.1:g.(?_7 91339)_(913427_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nssv14469792 | Remapped | Good | NT_187663.1:g.(?_7 91339)_(913427_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nssv14470697 | Remapped | Good | NT_187663.1:g.(?_7 91339)_(913427_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nssv14470901 | Remapped | Good | NT_187663.1:g.(?_7 91339)_(913427_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nssv14471055 | Remapped | Good | NT_187663.1:g.(?_7 91339)_(913427_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nssv14471768 | Remapped | Good | NT_187663.1:g.(?_7 91339)_(913427_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 791,339 | 913,427 |
| nssv14468543 | Remapped | Perfect | NC_000017.11:g.(?_ 46089238)_(4621125 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nssv14468973 | Remapped | Perfect | NC_000017.11:g.(?_ 46089238)_(4621125 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nssv14469792 | Remapped | Perfect | NC_000017.11:g.(?_ 46089238)_(4621125 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nssv14470697 | Remapped | Perfect | NC_000017.11:g.(?_ 46089238)_(4621125 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nssv14470901 | Remapped | Perfect | NC_000017.11:g.(?_ 46089238)_(4621125 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nssv14471055 | Remapped | Perfect | NC_000017.11:g.(?_ 46089238)_(4621125 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nssv14471768 | Remapped | Perfect | NC_000017.11:g.(?_ 46089238)_(4621125 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,089,238 | 46,211,254 |
| nssv14468543 | Submitted genomic | NC_000017.10:g.(?_ 44166604)_(4428862 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 | ||
| nssv14468973 | Submitted genomic | NC_000017.10:g.(?_ 44166604)_(4428862 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 | ||
| nssv14469792 | Submitted genomic | NC_000017.10:g.(?_ 44166604)_(4428862 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 | ||
| nssv14470697 | Submitted genomic | NC_000017.10:g.(?_ 44166604)_(4428862 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 | ||
| nssv14470901 | Submitted genomic | NC_000017.10:g.(?_ 44166604)_(4428862 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 | ||
| nssv14471055 | Submitted genomic | NC_000017.10:g.(?_ 44166604)_(4428862 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 | ||
| nssv14471768 | Submitted genomic | NC_000017.10:g.(?_ 44166604)_(4428862 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,166,604 | 44,288,620 |