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dbVar

Database of genomic structural variation

nsv917731

Organism: Homo sapiens

Study:nstd75 (ClinGen Prenatal)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:253,815

Publication(s):Wapner et al. 2012

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: 3632 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):32,369,617-32,623,431

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917731	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	32,369,617	32,623,431
nsv917731	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	32,380,938	32,634,752
nsv917731	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	32,288,439	32,542,253

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605615	copy number loss	ISCA_ID_pn_1339	Oligo aCGH	Probe signal intensity	Increased nuchal translucency	Benign	Submitter	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1605615	Remapped	Perfect	NC_000016.10:g.(?_ 32369617)_(3262343 1_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	32,369,617	32,623,431
nssv1605615	Remapped	Perfect	NC_000016.9:g.(?_3 2380938)_(32634752 _?)del	GRCh37.p13	First Pass	NC_000016.9	Chr16	32,380,938	32,634,752
nssv1605615	Submitted genomic		NC_000016.8:g.(?_3 2288439)_(32542253 _?)del	NCBI36 (hg18)		NC_000016.8	Chr16	32,288,439	32,542,253

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1605615	ISCA_ID_pn_1339	NCBI36: NC_000016.8:g.(?_32288439)_(32542253_?)del	copy number loss	Increased nuchal translucency	Benign	Submitter	Female	12 weeks gestation	1

No genotype data were submitted for this variant

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