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dbVar

Database of genomic structural variation

nsv5672756

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:537,159

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: 1917 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):29,663,723-30,200,881

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5672756	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,663,723	30,200,881
nsv5672756	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,675,044	30,212,202

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17173272	deletion	Multiple	Multiple	16p11.2 Recurrent Microdeletion; 16p11.2 deletion syndrome; CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB; Proximal 16p11.2 microdeletion syndrome	Pathogenic	ClinVar	RCV001391671.1, VCV001077186.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17173272	Remapped	Perfect	NC_000016.10:g.296 63723_30200881del	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,663,723	30,200,881
nssv17173272	Submitted genomic		NC_000016.9:g.2967 5044_30212202del	GRCh37 (hg19)		NC_000016.9	Chr16	29,675,044	30,212,202

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	Copy number
nssv17173272	GRCh37: NC_000016.9:g.29675044_30212202del	deletion	de novo	16p11.2 Recurrent Microdeletion; 16p11.2 deletion syndrome; CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB; Proximal 16p11.2 microdeletion syndrome	Pathogenic	ClinVar	RCV001391671.1, VCV001077186.1	1

No genotype data were submitted for this variant

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