nsv4807280
- 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:735
- 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: 264 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4807280 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,790,613 (+9) | 195,791,332 (+1) |
| nsv4807280 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 160,447 (+9) | 161,181 (+1) |
| nsv4807280 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 3,404 (+9) | 4,123 (+1) |
| nsv4807280 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 3,404 (+9) | 4,123 (+1) |
| nsv4807280 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 3,404 (+9) | 4,123 (+1) |
| nsv4807280 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 3,404 (+9) | 4,123 (+1) |
| nsv4807280 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 168,421 (+9) | 169,155 (+1) |
| nsv4807280 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 3,404 (+9) | 4,123 (+1) |
| nsv4807280 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,517,484 (+9) | 195,518,203 (+1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16319309 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16319309 | Remapped | Perfect | NT_187678.1:g.(?_3 413)_(?_4124)del | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 3,404 (+9) | 4,123 (+1) |
| nssv16319309 | Remapped | Perfect | NT_187688.1:g.(?_3 413)_(?_4124)del | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 3,404 (+9) | 4,123 (+1) |
| nssv16319309 | Remapped | Perfect | NT_187690.1:g.(?_3 413)_(?_4124)del | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 3,404 (+9) | 4,123 (+1) |
| nssv16319309 | Remapped | Perfect | NT_187691.1:g.(?_3 413)_(?_4124)del | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 3,404 (+9) | 4,123 (+1) |
| nssv16319309 | Remapped | Good | NT_187689.1:g.(?_1 60456)_(?_161182)d el | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 160,447 (+9) | 161,181 (+1) |
| nssv16319309 | Remapped | Perfect | NT_187649.1:g.(?_3 413)_(?_4124)del | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 3,404 (+9) | 4,123 (+1) |
| nssv16319309 | Remapped | Good | NT_187532.1:g.(?_1 68430)_(?_169156)d el | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 168,421 (+9) | 169,155 (+1) |
| nssv16319309 | Remapped | Perfect | NC_000003.12:g.(?_ 195790622)_(?_1957 91333)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,790,613 (+9) | 195,791,332 (+1) |
| nssv16319309 | Submitted genomic | NC_000003.11:g.(?_ 195517493)_(?_1955 18204)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,517,484 (+9) | 195,518,203 (+1) |
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) |
|---|---|---|---|
| nssv16319309 | <0.001 | 1 | 16834 |