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dbVar

Database of genomic structural variation

nsv917686

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:349,173

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: 899 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):7,166,742-7,515,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917686	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	7,166,742	7,515,914
nsv917686	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	7,084,783	7,433,955
nsv917686	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	7,094,783	7,443,955

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1606654	copy number loss	ISCA_ID_pn_2260	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Pathogenic	Submitter	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1606654	Remapped	Perfect	NC_000023.11:g.(?_ 7166742)_(7515914_ ?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	7,166,742	7,515,914
nssv1606654	Remapped	Perfect	NC_000023.10:g.(?_ 7084783)_(7433955_ ?)del	GRCh37.p13	First Pass	NC_000023.10	ChrX	7,084,783	7,433,955
nssv1606654	Submitted genomic		NC_000023.9:g.(?_7 094783)_(7443955_? )del	NCBI36 (hg18)		NC_000023.9	ChrX	7,094,783	7,443,955

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
nssv1606654	ISCA_ID_pn_2260	NCBI36: NC_000023.9:g.(?_7094783)_(7443955_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Pathogenic	Submitter	Male	10 weeks gestation	0

No genotype data were submitted for this variant

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