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dbVar

Database of genomic structural variation

nsv5200382

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:524,647

Description:
GRCh37/hg19 16p11.2(chr16:29673954-30198600) AND Autism
Publication(s):Miller et al. 2010

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: 1863 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):29,662,633-30,187,279

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5200382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,662,633	30,187,279
nsv5200382	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,673,954	30,198,600

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16736649	copy number gain	Multiple	Multiple	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Pathogenic	ClinVar	RCV001291991.1, VCV000997089.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16736649	Remapped	Perfect	NC_000016.10:g.(?_ 29662633)_(3018727 9_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,662,633	30,187,279
nssv16736649	Submitted genomic		NC_000016.9:g.(?_2 9673954)_(30198600 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	29,673,954	30,198,600

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16736649	GRCh37: NC_000016.9:g.(?_29673954)_(30198600_?)dup	copy number gain	paternal	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Pathogenic	ClinVar	RCV001291991.1, VCV000997089.1

No genotype data were submitted for this variant

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