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dbVar

Database of genomic structural variation

nsv3871061

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:15,009

Description:
See descriptions for individual calls in download files
Publication(s):Kasak et al. 2015

Links to Other Resources

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: 1068 SVs from 80 studies. See in: genome view

Remapped(Score: Good):90,055,411-90,070,419

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3871061	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	90,055,411	90,070,419
nsv3871061	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	90,094,257	90,109,261

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123045	deletion	Multiple	Multiple	Normal pregnancy	not provided	ClinVar	RCV000161223.1, VCV000156797.1
nssv15123046	deletion	Multiple	Multiple	Large for gestational age; Large for gestational age	not provided	ClinVar	RCV000161224.1, VCV000156797.1
nssv15123047	deletion	Multiple	Multiple	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161225.1, VCV000156797.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15123045	Remapped	Good	NC_000002.12:g.900 55411_90070419del	GRCh38.p12	First Pass	NC_000002.12	Chr2	90,055,411	90,070,419
nssv15123046	Remapped	Good	NC_000002.12:g.900 55411_90070419del	GRCh38.p12	First Pass	NC_000002.12	Chr2	90,055,411	90,070,419
nssv15123047	Remapped	Good	NC_000002.12:g.900 55411_90070419del	GRCh38.p12	First Pass	NC_000002.12	Chr2	90,055,411	90,070,419
nssv15123045	Submitted genomic		NC_000002.11:g.900 94257_90109261del	GRCh37 (hg19)		NC_000002.11	Chr2	90,094,257	90,109,261
nssv15123046	Submitted genomic		NC_000002.11:g.900 94257_90109261del	GRCh37 (hg19)		NC_000002.11	Chr2	90,094,257	90,109,261
nssv15123047	Submitted genomic		NC_000002.11:g.900 94257_90109261del	GRCh37 (hg19)		NC_000002.11	Chr2	90,094,257	90,109,261

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
nssv15123045	GRCh37: NC_000002.11:g.90094257_90109261del	deletion	unknown	Normal pregnancy	not provided	ClinVar	RCV000161223.1, VCV000156797.1
nssv15123046	GRCh37: NC_000002.11:g.90094257_90109261del	deletion	unknown	Large for gestational age; Large for gestational age	not provided	ClinVar	RCV000161224.1, VCV000156797.1
nssv15123047	GRCh37: NC_000002.11:g.90094257_90109261del	deletion	unknown	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161225.1, VCV000156797.1

No genotype data were submitted for this variant

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