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dbVar

Database of genomic structural variation

nsv917973

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:128,948

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: 809 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):110,097,145-110,226,092

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917973	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	110,097,145	110,226,092
nsv917973	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	110,854,722	110,983,669
nsv917973	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	110,212,011	110,340,958

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605596	copy number loss	ISCA_ID_pn_1321	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
nssv1605596	Remapped	Perfect	NC_000002.12:g.(?_ 110097145)_(110226 092_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	110,097,145	110,226,092
nssv1605596	Remapped	Perfect	NC_000002.11:g.(?_ 110854722)_(110983 669_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	110,854,722	110,983,669
nssv1605596	Submitted genomic		NC_000002.10:g.(?_ 110212011)_(110340 958_?)del	NCBI36 (hg18)		NC_000002.10	Chr2	110,212,011	110,340,958

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
nssv1605596	ISCA_ID_pn_1321	NCBI36: NC_000002.10:g.(?_110212011)_(110340958_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	Submitter	Female	21 weeks gestation	1

No genotype data were submitted for this variant

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