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dbVar

Database of genomic structural variation

nsv7098415

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:1,455,070

Description:NC_000023.10:g.(?_43515590)_(44970656_?)del AND Kabuki syndrome 2
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: 2526 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):43,656,342-45,111,411

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098415	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	43,656,342	45,111,411
nsv7098415	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	43,515,590	44,970,656

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788859	deletion	Multiple	Multiple	KABUKI SYNDROME 2; KABUK2; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome 2	Pathogenic	ClinVar	RCV003109821.2, VCV002426670.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788859	Remapped	Perfect	NC_000023.11:g.(?_ 43656342)_(4511141 1_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	43,656,342	45,111,411
nssv18788859	Submitted genomic		NC_000023.10:g.(?_ 43515590)_(4497065 6_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	43,515,590	44,970,656

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
nssv18788859	GRCh37: NC_000023.10:g.(?_43515590)_(44970656_?)del	deletion	germline	KABUKI SYNDROME 2; KABUK2; Kabuki Syndrome; Kabuki syndrome; Kabuki syndrome 2	Pathogenic	ClinVar	RCV003109821.2, VCV002426670.2

No genotype data were submitted for this variant

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