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dbVar

Database of genomic structural variation

nsv6309271

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:5,663

Description:NC_000012.11:g.(?_49443445)_(49449107_?)dup AND Kabuki syndrome
Publication(s):Adam et al. 2011

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: 80 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):49,049,662-49,055,324

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309271	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	49,049,662	49,055,324
nsv6309271	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	49,443,445	49,449,107

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970583	duplication	Multiple	Multiple	KABUKI SYNDROME 1; KABUK1; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome	Uncertain significance	ClinVar	RCV001920306.2, VCV001410824.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970583	Remapped	Perfect	NC_000012.12:g.(?_ 49049662)_(4905532 4_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	49,049,662	49,055,324
nssv17970583	Submitted genomic		NC_000012.11:g.(?_ 49443445)_(4944910 7_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	49,443,445	49,449,107

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
nssv17970583	GRCh37: NC_000012.11:g.(?_49443445)_(49449107_?)dup	duplication	germline	KABUKI SYNDROME 1; KABUK1; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome	Uncertain significance	ClinVar	RCV001920306.2, VCV001410824.2

No genotype data were submitted for this variant

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