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dbVar

Database of genomic structural variation

nsv917649

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:27,723

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: 645 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):110,101,572-110,129,294

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917649	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	110,101,572	110,129,294
nsv917649	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	110,859,149	110,886,871
nsv917649	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	110,216,438	110,244,160

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1606359	copy number loss	ISCA_ID_pn_2001	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
nssv1606359	Remapped	Perfect	NC_000002.12:g.(?_ 110101572)_(110129 294_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	110,101,572	110,129,294
nssv1606359	Remapped	Perfect	NC_000002.11:g.(?_ 110859149)_(110886 871_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	110,859,149	110,886,871
nssv1606359	Submitted genomic		NC_000002.10:g.(?_ 110216438)_(110244 160_?)del	NCBI36 (hg18)		NC_000002.10	Chr2	110,216,438	110,244,160

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
nssv1606359	ISCA_ID_pn_2001	NCBI36: NC_000002.10:g.(?_110216438)_(110244160_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	Submitter	Male	12 weeks gestation	1

No genotype data were submitted for this variant

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