nsv4864653
- 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:5,917
- 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: 230 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4864653 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,118,091 (-84, +2) | 41,124,007 (-3, +43) |
| nsv4864653 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 267,841 (-84, +2) | 273,743 (-3, +43) |
| nsv4864653 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,274,343 (-84, +2) | 39,280,259 (-3, +43) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16389255 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16389255 | Remapped | Good | NW_003871091.1:g.( 267757_267843)_(27 3740_273786)dup | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 267,841 (-84, +2) | 273,743 (-3, +43) |
| nssv16389255 | Remapped | Perfect | NC_000017.11:g.(41 118007_41118093)_( 41124004_41124050) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,118,091 (-84, +2) | 41,124,007 (-3, +43) |
| nssv16389255 | Submitted genomic | NC_000017.10:g.(39 274259_39274345)_( 39280256_39280302) dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,274,343 (-84, +2) | 39,280,259 (-3, +43) |
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) |
|---|---|---|---|
| nssv16389255 | <0.001 | 3 | 16834 |