nsv4714780
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha et al. 2021
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: 396 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4714780 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 1,465,126 | 1,465,127 |
| nsv4714780 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187547.1 | Chr5|NT_18 7547.1 | 44,646 | 44,647 |
| nsv4714780 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 1,465,241 | 1,465,242 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16250325 | tandem duplication | B450 | Sequencing | Paired-end mapping | 1 | 4,473 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16250325 | Remapped | Perfect | NT_187547.1:g.4464 6_44647dup | GRCh38.p12 | Second Pass | NT_187547.1 | Chr5|NT_18 7547.1 | 44,646 | 44,647 |
| nssv16250325 | Remapped | Perfect | NC_000005.10:g.146 5126_1465127dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,465,126 | 1,465,127 |
| nssv16250325 | Submitted genomic | NC_000005.9:g.1465 241_1465242dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,465,241 | 1,465,242 |