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dbVar

Database of genomic structural variation

nsv7137216

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:4,200,702

Description:GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) AND Chromosome 17q12 deletion syndrome
Publication(s):Mitchel et al. 2016

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: 11292 SVs from 126 studies. See in: genome view

Remapped(Score: Pass):32,245,843-36,446,544

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nsv7137216	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	32,245,843	36,446,544	-
nsv7137216	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	30,572,862	-	35,843,988

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830976	copy number loss	Multiple	Multiple	17q12 Recurrent Deletion Syndrome; CHROMOSOME 17q12 DELETION SYNDROME; Chromosome 17q12 deletion syndrome	Pathogenic	ClinVar	RCV003319594.1, VCV002574697.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nssv18830976	Remapped	Pass	NC_000017.11:g.(32 245843_?)_(3644654 4_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	32,245,843	36,446,544	-
nssv18830976	Submitted genomic		NC_000017.10:g.(30 572862_?)_(?_35843 988)del	GRCh37 (hg19)		NC_000017.10	Chr17	30,572,862	-	35,843,988

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
nssv18830976	GRCh37: NC_000017.10:g.(30572862_?)_(?_35843988)del	copy number loss	unknown	17q12 Recurrent Deletion Syndrome; CHROMOSOME 17q12 DELETION SYNDROME; Chromosome 17q12 deletion syndrome	Pathogenic	ClinVar	RCV003319594.1, VCV002574697.1

No genotype data were submitted for this variant

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