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dbVar

Database of genomic structural variation

nsv3884730

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:29,107

Description:
NC_000021.8:g.35027142_35056247del AND Preeclampsia
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: 186 SVs from 35 studies. See in: genome view

Remapped(Score: Good):33,654,836-33,683,942

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3884730	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	33,654,836	33,683,942
nsv3884730	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	35,027,142	35,056,247

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123645	deletion	Multiple	Multiple	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161896.1, VCV000157470.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15123645	Remapped	Good	NC_000021.9:g.3365 4836_33683942del	GRCh38.p12	First Pass	NC_000021.9	Chr21	33,654,836	33,683,942
nssv15123645	Submitted genomic		NC_000021.8:g.3502 7142_35056247del	GRCh37 (hg19)		NC_000021.8	Chr21	35,027,142	35,056,247

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
nssv15123645	GRCh37: NC_000021.8:g.35027142_35056247del	deletion	unknown	PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia	not provided	ClinVar	RCV000161896.1, VCV000157470.1

No genotype data were submitted for this variant

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