nsv4836527
- 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:71
- 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: 95 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4836527 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,294,336 | 56,294,406 |
| nsv4836527 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 105,085 | 105,155 |
| nsv4836527 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 56,061,812 | 56,061,882 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16337649 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16337649 | Remapped | Perfect | NW_003871073.1:g.1 05085_105155del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 105,085 | 105,155 |
| nssv16337649 | Remapped | Perfect | NC_000011.10:g.562 94336_56294406del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,294,336 | 56,294,406 |
| nssv16337649 | Submitted genomic | NC_000011.9:g.5606 1812_56061882del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 56,061,812 | 56,061,882 |
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) |
|---|---|---|---|
| nssv16337649 | <0.001 | 1 | 16834 |