nsv4938933
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,648
- 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: 188 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4938933 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 141,151,890 (-4, +4) | 141,157,537 (-7, +7) | ||
| nsv4938933 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,531,471 (-4, +4) | 140,537,118 (-7, +7) |
| nsv4938933 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 387,066 (-4, +4) | 392,713 (-7, +7) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16472986 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16472986 | Submitted genomic | NC_000005.10:g.(14 1151886_141151894) _(141157530_141157 544)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 141,151,890 (-4, +4) | 141,157,537 (-7, +7) | ||
| nssv16472986 | Remapped | Perfect | NW_004775428.1:g.( 387062_387070)_(39 2706_392720)del | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 387,066 (-4, +4) | 392,713 (-7, +7) |
| nssv16472986 | Remapped | Perfect | NC_000005.9:g.(140 531467_140531475)_ (140537111_1405371 25)del | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,531,471 (-4, +4) | 140,537,118 (-7, +7) |
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) |
|---|---|---|---|
| nssv16472986 | 0.003 | 95 | 29246 |