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dbVar

Database of genomic structural variation

nsv4578649

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:434,642

Description:GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1 AND Kabuki syndrome 1
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: 1083 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):48,640,542-49,075,183

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4578649	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	48,640,542	49,075,183
nsv4578649	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	49,034,325	49,468,966

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091781	copy number loss	Multiple	Multiple	KABUKI SYNDROME 1; KABUK1; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome 1	Pathogenic	ClinVar	RCV000859976.2, VCV000633775.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16091781	Remapped	Perfect	NC_000012.12:g.486 40542_49075183del	GRCh38.p12	First Pass	NC_000012.12	Chr12	48,640,542	49,075,183
nssv16091781	Submitted genomic		NC_000012.11:g.490 34325_49468966del	GRCh37 (hg19)		NC_000012.11	Chr12	49,034,325	49,468,966

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
nssv16091781	GRCh37: NC_000012.11:g.49034325_49468966del	copy number loss	de novo	KABUKI SYNDROME 1; KABUK1; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome 1	Pathogenic	ClinVar	RCV000859976.2, VCV000633775.2	1

No genotype data were submitted for this variant

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