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dbVar

Database of genomic structural variation

nsv4578253

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:503,937

Description:GRCh37/hg19 17q21.31(chr17:43706886-44210822)x1 AND Koolen-de Vries syndrome
Publication(s):Koolen 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: 2755 SVs from 107 studies. See in: genome view

Remapped(Score: Perfect):45,629,520-46,133,456

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4578253	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	45,629,520	46,133,456
nsv4578253	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	331,644	835,563
nsv4578253	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	43,706,886	44,210,822

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091744	copy number loss	Multiple	Multiple	KOOLEN-DE VRIES SYNDROME; KDVS; Koolen-De Vries syndrome; Koolen-de Vries Syndrome; Koolen-de Vries syndrome	Pathogenic	ClinVar	RCV000856640.2, VCV000666442.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16091744	Remapped	Good	NT_187663.1:g.(?_3 31644)_(835563_?)d el	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	331,644	835,563
nssv16091744	Remapped	Perfect	NC_000017.11:g.(?_ 45629520)_(4613345 6_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	45,629,520	46,133,456
nssv16091744	Submitted genomic		NC_000017.10:g.(?_ 43706886)_(4421082 2_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	43,706,886	44,210,822

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
nssv16091744	GRCh37: NC_000017.10:g.(?_43706886)_(44210822_?)del	copy number loss	germline	KOOLEN-DE VRIES SYNDROME; KDVS; Koolen-De Vries syndrome; Koolen-de Vries Syndrome; Koolen-de Vries syndrome	Pathogenic	ClinVar	RCV000856640.2, VCV000666442.2	1

No genotype data were submitted for this variant

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