nsv4831140
- 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:175,459
- 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: 1396 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 578 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 663 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 1396 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4831140 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,557,504 (-3) | 1,732,962 (-1, +3) |
| nsv4831140 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 34,031 (-3) | 206,708 (-1, +3) |
| nsv4831140 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 39,741 (-3) | 177,092 (-1, +3) |
| nsv4831140 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,578,734 (-3) | 1,754,192 (-1, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16384948 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16384948 | Remapped | Good | NT_187657.1:g.(340 28_?)_(206707_2067 11)dup | GRCh38.p12 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 34,031 (-3) | 206,708 (-1, +3) |
| nssv16384948 | Remapped | Pass | NT_187584.1:g.(397 38_?)_(177091_1770 95)dup | GRCh38.p12 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 39,741 (-3) | 177,092 (-1, +3) |
| nssv16384948 | Remapped | Perfect | NC_000011.10:g.(15 57501_?)_(1732961_ 1732965)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,557,504 (-3) | 1,732,962 (-1, +3) |
| nssv16384948 | Submitted genomic | NC_000011.9:g.(157 8731_?)_(1754191_1 754195)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,578,734 (-3) | 1,754,192 (-1, +3) |
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) |
|---|---|---|---|
| nssv16384948 | <0.001 | 1 | 16834 |