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dbVar

Database of genomic structural variation

nsv3872571

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:17,920

Description:GRCh37/hg19 Xq23(chrX:108919564-108929311) AND multiple conditions
Publication(s):Manickam et al. 2021, Meschia et al. 2014, Michelson 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: 107 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):109,672,434-109,690,353

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3872571	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	109,672,434	109,676,335	109,686,082	109,690,353
nsv3872571	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	108,915,663	108,919,564	108,929,311	108,933,582

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129446	copy number loss	Multiple	Multiple	Global developmental delay; Global developmental delay; Ischemic stroke; Ischemic stroke; STROKE, ISCHEMIC	Pathogenic	ClinVar	RCV000663364.1, VCV000548953.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15129446	Remapped	Perfect	NC_000023.11:g.(10 9672434_109676335) _(109686082_109690 353)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	109,672,434	109,676,335	109,686,082	109,690,353
nssv15129446	Submitted genomic		NC_000023.10:g.(10 8915663_108919564) _(108929311_108933 582)del	GRCh37 (hg19)		NC_000023.10	ChrX	108,915,663	108,919,564	108,929,311	108,933,582

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
nssv15129446	GRCh37: NC_000023.10:g.(108915663_108919564)_(108929311_108933582)del	copy number loss	maternal	Global developmental delay; Global developmental delay; Ischemic stroke; Ischemic stroke; STROKE, ISCHEMIC	Pathogenic	ClinVar	RCV000663364.1, VCV000548953.1

No genotype data were submitted for this variant

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