nsv930480
- Organism: Homo sapiens
- Study:nstd78 (Schrider et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:730
- Description:A processed transcript of the CKS1B gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample, by convention it must be referred to here as a deletion.
- Publication(s):Schrider et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 174 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv930480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 62,511,753 | 62,512,482 |
| nsv930480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 61,807,580 | 61,808,309 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity |
|---|---|---|---|---|---|
| nssv1607662 | deletion | NA19395 | Sequencing | Paired-end mapping | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607662 | Remapped | Perfect | NC_000005.10:g.(62 511753_?)_(?_62512 482)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,511,753 | 62,512,482 |
| nssv1607662 | Submitted genomic | NC_000005.9:g.(618 07580_?)_(?_618083 09)del713 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,807,580 | 61,808,309 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1607662 | 2 | NA19395 | PCR | Manual observation | Pass |