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dbVar

Database of genomic structural variation

nsv917498

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:50,521

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: 901 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):204,192-254,712

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	204,192	254,712
nsv917498	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	204,192	254,712
nsv917498	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	194,192	244,712

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1607127	copy number loss	ISCA_ID_pn_532	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	Submitter	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1607127	Remapped	Perfect	NC_000009.12:g.(?_ 204192)_(254712_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	204,192	254,712
nssv1607127	Remapped	Perfect	NC_000009.11:g.(?_ 204192)_(254712_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	204,192	254,712
nssv1607127	Submitted genomic		NC_000009.10:g.(?_ 194192)_(244712_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	194,192	244,712

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
nssv1607127	ISCA_ID_pn_532	NCBI36: NC_000009.10:g.(?_194192)_(244712_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	Submitter	Female	18 weeks gestation	1

No genotype data were submitted for this variant

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