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dbVar

Database of genomic structural variation

nsv5381744

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:31,163

Description:GRCh37/hg19 Xq24(chrX:119660616-119681095)x1 AND Intellectual disability
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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

Remapped(Score: Perfect):120,526,761-120,557,923

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv5381744	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	120,526,761	120,547,240	120,557,923
nsv5381744	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	119,660,616	119,681,095	119,691,778

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16865901	copy number loss	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Likely pathogenic	ClinVar	RCV001293647.2, VCV000997964.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv16865901	Remapped	Perfect	NC_000023.11:g.(?_ 120526761)_(120547 240_120557923)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,526,761	120,547,240	120,557,923
nssv16865901	Submitted genomic		NC_000023.10:g.(?_ 119660616)_(119681 095_119691778)del	GRCh37 (hg19)		NC_000023.10	ChrX	119,660,616	119,681,095	119,691,778

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
nssv16865901	GRCh37: NC_000023.10:g.(?_119660616)_(119681095_119691778)del	copy number loss	unknown	Intellectual Disability; Intellectual disability; Intellectual disability	Likely pathogenic	ClinVar	RCV001293647.2, VCV000997964.1	1

No genotype data were submitted for this variant

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