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dbVar

Database of genomic structural variation

nsv6315111

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:154,473

Description:Single allele AND See cases

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: 352 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):103,519,822-103,674,294

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6315111	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	103,519,822	103,674,294
nsv6315111	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	102,774,750	102,929,222

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976663	deletion	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV002274295.1, VCV001700034.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17976663	Remapped	Perfect	NC_000023.11:g.103 519822_103674294de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	103,519,822	103,674,294
nssv17976663	Submitted genomic		NC_000023.10:g.102 774750_102929222de l	GRCh37 (hg19)		NC_000023.10	ChrX	102,774,750	102,929,222

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
nssv17976663	GRCh37: NC_000023.10:g.102774750_102929222del	deletion	de novo	See cases	Likely pathogenic	ClinVar	RCV002274295.1, VCV001700034.1

No genotype data were submitted for this variant

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