nsv3874097
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:11,466
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015, Mintz et al. 2021
- ClinVar: RCV000161902.1
- ClinVar: RCV000161903.1
- ClinVar: RCV000161904.1
- ClinVar: RCV000161905.1
- ClinVar: VCV000157476.1
- HP: 0001518
- HP: 0001520
- HP: 0100602
- MONDO: 0005081
- MedGen: C0032914
- MedGen: C0232989
- MedGen: C0235991
- MedGen: C1848395
- OMIM: 189800
- OMIM: PS189800
- PubMed: 25666259
- PubMed: 33514815
- Overlapping Genes
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: 1502 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1502 SVs from 92 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3874097 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 25,436,452 | 25,447,917 |
| nsv3874097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 25,832,419 | 25,843,884 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123192 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161902.1, VCV000157476.1 |
| nssv15123193 | deletion | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161904.1, VCV000157476.1 |
| nssv15123648 | deletion | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161903.1, VCV000157476.1 |
| nssv15123649 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161905.1, VCV000157476.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123192 | Submitted genomic | NC_000022.11:g.254 36452_25447917del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,436,452 | 25,447,917 |
| nssv15123193 | Submitted genomic | NC_000022.11:g.254 36452_25447917del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,436,452 | 25,447,917 |
| nssv15123648 | Submitted genomic | NC_000022.11:g.254 36452_25447917del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,436,452 | 25,447,917 |
| nssv15123649 | Submitted genomic | NC_000022.11:g.254 36452_25447917del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,436,452 | 25,447,917 |
| nssv15123192 | Submitted genomic | NC_000022.10:g.258 32419_25843884del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,832,419 | 25,843,884 |
| nssv15123193 | Submitted genomic | NC_000022.10:g.258 32419_25843884del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,832,419 | 25,843,884 |
| nssv15123648 | Submitted genomic | NC_000022.10:g.258 32419_25843884del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,832,419 | 25,843,884 |
| nssv15123649 | Submitted genomic | NC_000022.10:g.258 32419_25843884del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,832,419 | 25,843,884 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123192 | GRCh37: NC_000022.10:g.25832419_25843884del, GRCh38: NC_000022.11:g.25436452_25447917del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161902.1, VCV000157476.1 |
| nssv15123193 | GRCh37: NC_000022.10:g.25832419_25843884del, GRCh38: NC_000022.11:g.25436452_25447917del | deletion | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161904.1, VCV000157476.1 |
| nssv15123648 | GRCh37: NC_000022.10:g.25832419_25843884del, GRCh38: NC_000022.11:g.25436452_25447917del | deletion | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161903.1, VCV000157476.1 |
| nssv15123649 | GRCh37: NC_000022.10:g.25832419_25843884del, GRCh38: NC_000022.11:g.25436452_25447917del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161905.1, VCV000157476.1 |