nsv4864413
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:462
- Publication(s):Abel 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: 392 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 59 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4864413 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 367,015 (-88, +88) | 367,476 (-103, +127) |
| nsv4864413 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 35,162 (-88, +88) | 35,623 (-103, +127) |
| nsv4864413 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 340,069 (-88, +88) | 340,530 (-103, +127) |
| nsv4864413 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 216,806 (-88, +88) | 217,267 (-103, +127) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16389141 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16389141 | Remapped | Perfect | NT_187662.1:g.(350 74_35250)_(35520_3 5750)dup | GRCh38.p12 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 35,162 (-88, +88) | 35,623 (-103, +127) |
| nssv16389141 | Remapped | Perfect | NW_003315952.3:g.( 339981_340157)_(34 0427_340657)dup | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 340,069 (-88, +88) | 340,530 (-103, +127) |
| nssv16389141 | Remapped | Perfect | NC_000017.11:g.(36 6927_367103)_(3673 73_367603)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 367,015 (-88, +88) | 367,476 (-103, +127) |
| nssv16389141 | Submitted genomic | NC_000017.10:g.(21 6718_216894)_(2171 64_217394)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 216,806 (-88, +88) | 217,267 (-103, +127) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16389141 | 0.376 | 6328 | 16834 |