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dbVar

Database of genomic structural variation

nsv3319002

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:192,597

Description:KIAA2022
Publication(s):Barbe et al. 2008, Cantagrel et al. 2004, Kimura et al. 2006, Meliones et al. 1989, Riggs et al. 2011, Ross et al. 2005, Strausberg et al. 2002, Webster et al. 2016, de Lange et al. 2016

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: 379 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):74,732,856-74,925,452

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3319002	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	74,732,856	74,925,452
nsv3319002	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	73,952,691	74,145,287

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv14472028	copy number loss	Curated	Curated	NEURITE EXTENSION AND MIGRATION FACTOR; NEXMIF	Pathogenic	ClinGen Dosage Sensitivity Map	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14472028	Remapped	Perfect	NC_000023.11:g.(?_ 74732856)_(7492545 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	74,732,856	74,925,452
nssv14472028	Submitted genomic		NC_000023.10:g.(?_ 73952691)_(7414528 7_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	73,952,691	74,145,287

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv14472028	GRCh37: NC_000023.10:g.(?_73952691)_(74145287_?)del	copy number loss	NEURITE EXTENSION AND MIGRATION FACTOR; NEXMIF	Pathogenic	ClinGen Dosage Sensitivity Map	1

No genotype data were submitted for this variant

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