nsv4869126
- 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:1,740
- 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: 1038 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 1038 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4869126 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,436,803 (-1, +148) | 22,438,542 (-74, +2) |
| nsv4869126 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 72,441 (-1, +148) | 74,180 (-74, +2) |
| nsv4869126 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,791,140 (-1, +148) | 22,792,879 (-74, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16377228 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16377228 | Remapped | Perfect | NT_187629.1:g.(724 40_72589)_(74106_7 4182)del | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 72,441 (-1, +148) | 74,180 (-74, +2) |
| nssv16377228 | Remapped | Perfect | NC_000022.11:g.(22 436802_22436951)_( 22438468_22438544) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,436,803 (-1, +148) | 22,438,542 (-74, +2) |
| nssv16377228 | Submitted genomic | NC_000022.10:g.(22 791139_22791288)_( 22792805_22792881) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,791,140 (-1, +148) | 22,792,879 (-74, +2) |
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) |
|---|---|---|---|
| nssv16377228 | <0.001 | 1 | 16828 |