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dbVar

Database of genomic structural variation

nsv6315478

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:7,350,493

Description:GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961) AND Chromosome 10q23 deletion syndrome

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: 18552 SVs from 124 studies. See in: genome view

Remapped(Score: Perfect):79,870,712-87,221,204

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	79,870,712	87,221,204
nsv6315478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	81,630,468	88,980,961

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976899	copy number loss	Multiple	Multiple	CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME; Chromosome 10q22.3-q23.2 deletion syndrome; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV002280714.1, VCV001703626.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976899	Remapped	Perfect	NC_000010.11:g.(?_ 79870712)_(8722120 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	79,870,712	87,221,204
nssv17976899	Submitted genomic		NC_000010.10:g.(?_ 81630468)_(8898096 1_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	81,630,468	88,980,961

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
nssv17976899	GRCh37: NC_000010.10:g.(?_81630468)_(88980961_?)del	copy number loss	unknown	CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME; Chromosome 10q22.3-q23.2 deletion syndrome; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV002280714.1, VCV001703626.1

No genotype data were submitted for this variant

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