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dbVar

Database of genomic structural variation

nsv3901278

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:72,993

Description:GRCh37/hg19 10q23.1(chr10:84263480-84336472)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: 283 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):82,503,724-82,576,716

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3901278	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	82,503,724	82,576,716
nsv3901278	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	84,263,480	84,336,472

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15171482	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000749717.2, VCV000613081.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15171482	Remapped	Perfect	NC_000010.11:g.(?_ 82503724)_(8257671 6_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	82,503,724	82,576,716
nssv15171482	Submitted genomic		NC_000010.10:g.(?_ 84263480)_(8433647 2_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	84,263,480	84,336,472

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
nssv15171482	GRCh37: NC_000010.10:g.(?_84263480)_(84336472_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000749717.2, VCV000613081.2	1

No genotype data were submitted for this variant

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