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dbVar

Database of genomic structural variation

nsv6315566

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:2,211,974

Description:GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067) AND Familial clubfoot due to 17q23.1q23.2 microduplication

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: 5711 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):60,033,733-62,245,706

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315566	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	60,033,733	62,245,706
nsv6315566	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	58,111,094	60,323,067

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976906	copy number gain	Multiple	Multiple	CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME; Familial clubfoot due to 17q23.1q23.2 microduplication; Familial clubfoot due to 17q23.1q23.2 microduplication; Familial clubfoot with or without associated lower limb anomalies	Likely pathogenic	ClinVar	RCV002280709.1, VCV001703621.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976906	Remapped	Perfect	NC_000017.11:g.(?_ 60033733)_(6224570 6_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	60,033,733	62,245,706
nssv17976906	Submitted genomic		NC_000017.10:g.(?_ 58111094)_(6032306 7_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	58,111,094	60,323,067

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
nssv17976906	GRCh37: NC_000017.10:g.(?_58111094)_(60323067_?)dup	copy number gain	unknown	CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME; Familial clubfoot due to 17q23.1q23.2 microduplication; Familial clubfoot due to 17q23.1q23.2 microduplication; Familial clubfoot with or without associated lower limb anomalies	Likely pathogenic	ClinVar	RCV002280709.1, VCV001703621.1

No genotype data were submitted for this variant

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