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dbVar

Database of genomic structural variation

nsv4674000

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:4,646,335

Description:GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 AND not provided

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: 5531 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):106,730,093-111,376,427

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674000	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	106,730,093	111,376,427
nsv4674000	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	105,973,323	110,619,655

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208639	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001007332.1, VCV000816378.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208639	Remapped	Perfect	NC_000023.11:g.(?_ 106730093)_(111376 427_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	106,730,093	111,376,427
nssv16208639	Submitted genomic		NC_000023.10:g.(?_ 105973323)_(110619 655_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	105,973,323	110,619,655

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
nssv16208639	GRCh37: NC_000023.10:g.(?_105973323)_(110619655_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV001007332.1, VCV000816378.1	1

No genotype data were submitted for this variant

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