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dbVar

Database of genomic structural variation

nsv6637868

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:6,233,795

Description:GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)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: 14896 SVs from 118 studies. See in: genome view

Remapped(Score: Perfect):88,063,390-94,297,184

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637868	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	88,063,390	94,297,184
nsv6637868	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	89,823,147	96,056,941

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330784	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002472645.1, VCV001807839.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330784	Remapped	Perfect	NC_000010.11:g.(?_ 88063390)_(9429718 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	88,063,390	94,297,184
nssv18330784	Submitted genomic		NC_000010.10:g.(?_ 89823147)_(9605694 1_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	89,823,147	96,056,941

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
nssv18330784	GRCh37: NC_000010.10:g.(?_89823147)_(96056941_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV002472645.1, VCV001807839.1	1

No genotype data were submitted for this variant

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