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dbVar

Database of genomic structural variation

nsv6315130

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:33,189

Description:
NC_000016.9:g.89306725_89339913del33189 AND KBG syndrome
Publication(s):Morel Swols et al. 2018

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: 304 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):89,240,317-89,273,505

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6315130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,240,317	89,273,505
nsv6315130	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,306,725	89,339,913

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976635	deletion	Multiple	Multiple	KBG SYNDROME; KBGS; KBG Syndrome; KBG syndrome; KBG syndrome	Pathogenic	ClinVar	RCV002275244.1, VCV001341547.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17976635	Remapped	Perfect	NC_000016.10:g.892 40317_89273505del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,240,317	89,273,505
nssv17976635	Submitted genomic		NC_000016.9:g.8930 6725_89339913del	GRCh37 (hg19)		NC_000016.9	Chr16	89,306,725	89,339,913

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
nssv17976635	GRCh37: NC_000016.9:g.89306725_89339913del	deletion	de novo	KBG SYNDROME; KBGS; KBG Syndrome; KBG syndrome; KBG syndrome	Pathogenic	ClinVar	RCV002275244.1, VCV001341547.1

No genotype data were submitted for this variant

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