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dbVar

Database of genomic structural variation

nsv4685672

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:772,283

Description:
Single allele AND Proximal 16p11.2 microdeletion syndrome
Publication(s):Ebrahimi-Fakhari et al. 2018, Miller et al. 2009

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: 2417 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):29,435,283-30,207,565

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4685672	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,435,283	30,207,565
nsv4685672	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,446,604	30,218,886

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216737	deletion	Multiple	Multiple	16p11.2 Recurrent Microdeletion; 16p11.2 deletion syndrome; CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB; Proximal 16p11.2 microdeletion syndrome	risk factor	ClinVar	RCV001250752.1, VCV000974579.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16216737	Remapped	Perfect	NC_000016.10:g.(?_ 29435283)_(3020756 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,435,283	30,207,565
nssv16216737	Submitted genomic		NC_000016.9:g.(?_2 9446604)_(30218886 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	29,446,604	30,218,886

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
nssv16216737	GRCh37: NC_000016.9:g.(?_29446604)_(30218886_?)del	deletion	germline	16p11.2 Recurrent Microdeletion; 16p11.2 deletion syndrome; CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB; Proximal 16p11.2 microdeletion syndrome	risk factor	ClinVar	RCV001250752.1, VCV000974579.1

No genotype data were submitted for this variant

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