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dbVar

Database of genomic structural variation

nsv918094

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:212,997

Publication(s):Wapner et al. 2012

Links to Other Resources

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: 573 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):32,548,818-32,761,814

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv918094	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,548,818	32,761,814
nsv918094	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	32,566,935	32,779,931
nsv918094	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	32,476,856	32,689,852

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number	Other Calls in this Sample and Study
nssv1607036	copy number loss	ISCA_ID_pn_450	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Pathogenic	Submitter	0	nssv1606152

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1607036	Remapped	Perfect	NC_000023.11:g.(?_ 32548818)_(3276181 4_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,548,818	32,761,814
nssv1607036	Remapped	Perfect	NC_000023.10:g.(?_ 32566935)_(3277993 1_?)del	GRCh37.p13	First Pass	NC_000023.10	ChrX	32,566,935	32,779,931
nssv1607036	Submitted genomic		NC_000023.9:g.(?_3 2476856)_(32689852 _?)del	NCBI36 (hg18)		NC_000023.9	ChrX	32,476,856	32,689,852

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	Other Calls in this Sample and Study
nssv1607036	ISCA_ID_pn_450	NCBI36: NC_000023.9:g.(?_32476856)_(32689852_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Pathogenic	Submitter	Male	11 weeks gestation	0	nssv1606152

No genotype data were submitted for this variant

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