nsv4790224
- 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:853
- 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: 1150 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 696 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 696 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 1150 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4790224 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,046,708 (-76, +76) | 242,047,560 (-91, +91) |
| nsv4790224 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 90,418 (-76, +76) | 91,270 (-91, +91) |
| nsv4790224 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 90,778 (-76, +76) | 91,630 (-91, +91) |
| nsv4790224 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,988,859 (-76, +76) | 242,989,711 (-91, +91) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16304566 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16304566 | Remapped | Perfect | NT_187647.1:g.(903 42_90494)_(91179_9 1361)del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 90,418 (-76, +76) | 91,270 (-91, +91) |
| nssv16304566 | Remapped | Perfect | NT_187523.1:g.(907 02_90854)_(91539_9 1721)del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 90,778 (-76, +76) | 91,630 (-91, +91) |
| nssv16304566 | Remapped | Perfect | NC_000002.12:g.(24 2046632_242046784) _(242047469_242047 651)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,046,708 (-76, +76) | 242,047,560 (-91, +91) |
| nssv16304566 | Submitted genomic | NC_000002.11:g.(24 2988783_242988935) _(242989620_242989 802)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,988,859 (-76, +76) | 242,989,711 (-91, +91) |
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) |
|---|---|---|---|
| nssv16304566 | 0.111 | 1869 | 16824 |