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dbVar

Database of genomic structural variation

nsv4683512

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:695,507

Description:NC_000009.12:g.(?_137139467)_(137834973_?)del AND Kleefstra syndrome 1
Publication(s):Kleefstra 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: 3935 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):137,139,467-137,834,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683512	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	137,139,467	137,834,973
nsv4683512	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	140,033,919	140,729,425

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214707	deletion	Multiple	Multiple	KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1	Pathogenic	ClinVar	RCV001031572.1, VCV000830975.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214707	Remapped	Perfect	NC_000009.12:g.(?_ 137139467)_(137834 973_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,139,467	137,834,973
nssv16214707	Submitted genomic		NC_000009.11:g.(?_ 140033919)_(140729 425_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	140,033,919	140,729,425

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
nssv16214707	GRCh37: NC_000009.11:g.(?_140033919)_(140729425_?)del	deletion	germline	KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1	Pathogenic	ClinVar	RCV001031572.1, VCV000830975.1

No genotype data were submitted for this variant

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