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dbVar

Database of genomic structural variation

nsv917640

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:498,132

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: 1081 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):7,278,019-7,776,150

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917640	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	7,278,019	7,776,150
nsv917640	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	7,196,060	7,744,191
nsv917640	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	7,206,060	7,704,191

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1606142	copy number loss	ISCA_ID_pn_1808	Oligo aCGH	Probe signal intensity	Fetal megacystis	Benign	Submitter	1,2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1606142	Remapped	Perfect	NC_000023.11:g.(?_ 7278019)_(7776150_ ?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	7,278,019	7,776,150
nssv1606142	Remapped	Pass	NC_000023.10:g.(?_ 7196060)_(7744191_ ?)del	GRCh37.p13	First Pass	NC_000023.10	ChrX	7,196,060	7,744,191
nssv1606142	Submitted genomic		NC_000023.9:g.(?_7 206060)_(7704191_? )del	NCBI36 (hg18)		NC_000023.9	ChrX	7,206,060	7,704,191

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
nssv1606142	ISCA_ID_pn_1808	NCBI36: NC_000023.9:g.(?_7206060)_(7704191_?)del	copy number loss	Fetal megacystis	Benign	Submitter	Female	12 weeks gestation	1,2

No genotype data were submitted for this variant

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