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dbVar

Database of genomic structural variation

nsv918035

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:48,505

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: 305 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):35,786,205-35,834,709

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv918035	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	35,786,205	35,834,709
nsv918035	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	35,020,576	35,069,080
nsv918035	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	34,878,077	34,926,581

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1606593	copy number gain	ISCA_ID_pn_2205	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1606593	Remapped	Perfect	NC_000016.10:g.(?_ 35786205)_(3583470 9_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	35,786,205	35,834,709
nssv1606593	Remapped	Perfect	NC_000016.9:g.(?_3 5020576)_(35069080 _?)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	35,020,576	35,069,080
nssv1606593	Submitted genomic		NC_000016.8:g.(?_3 4878077)_(34926581 _?)dup	NCBI36 (hg18)		NC_000016.8	Chr16	34,878,077	34,926,581

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
nssv1606593	ISCA_ID_pn_2205	NCBI36: NC_000016.8:g.(?_34878077)_(34926581_?)dup	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Male	11 weeks gestation	3

No genotype data were submitted for this variant

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