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dbVar

Database of genomic structural variation

nsv997145

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:
Submitted on:GRCh37 (hg19)

Variant Calls:0
Validation:Not tested
Clinical Assertions: No
Region Size:239,438

Description:KDM6A; This region was evaluated in the context of Kabuki syndrome 2 (OMIM:300867), an X-linked dominant condition affecting both males (loss = copy number of 0) and females (loss = copy number of 1).
Publication(s):Agate et al. 2004, Agger et al. 2007, Ballif et al. 2004, Barbe et al. 2008, Beausoleil et al. 2004, Cho et al. 2007, Colland et al. 2004, Dalgliesh et al. 2010, Foresta et al. 2000, Gerrard et al. 2005, Grbavec et al. 1999, Greenfield et al. 1998, Hong et al. 2007, Issaeva et al. 2007, Lahn et al. 1997, Lan et al. 2007, Lederer et al. 2012, Lee et al. 2007, Lee et al. 2008, McLaughlin-Drubin et al. 2011, Miyake et al. 2013, Newby et al. 2010, Patel et al. 2007, Riggs et al. 2011, Strausberg et al. 2002, Tarpey et al. 2009, Wang et al. 2010, van Haaften et al. 2009

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: 541 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):44,873,175-45,112,612

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv997145	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	44,873,175	45,112,612
nsv997145	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	44,732,421	44,971,857

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv3442643	copy number loss	Curated	Curated	KABUKI SYNDROME 2; KABUK2	Pathogenic	ClinGen Dosage Sensitivity Map	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv3442643	Remapped	Perfect	NC_000023.11:g.(?_ 44873175)_(4511261 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	44,873,175	45,112,612
nssv3442643	Submitted genomic		NC_000023.10:g.(?_ 44732421)_(4497185 7_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	44,732,421	44,971,857

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv3442643	GRCh37: NC_000023.10:g.(?_44732421)_(44971857_?)del	copy number loss	KABUKI SYNDROME 2; KABUK2	Pathogenic	ClinGen Dosage Sensitivity Map	0

No genotype data were submitted for this variant

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