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dbVar

Database of genomic structural variation

nsv4455607

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:15,177,060

Description:GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 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: 52436 SVs from 132 studies. See in: genome view

Remapped(Score: Good):54,086-15,231,145

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4455607	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	54,086	15,231,145
nsv4455607	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	100,026	15,273,144

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15775839	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848062.2, VCV000687363.2	3
nssv15775850	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848090.2, VCV000687391.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15775839	Remapped	Good	NC_000010.11:g.(?_ 54086)_(15231145_? )dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,086	15,231,145
nssv15775850	Remapped	Good	NC_000010.11:g.(?_ 54086)_(15231145_? )dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,086	15,231,145
nssv15775839	Submitted genomic		NC_000010.10:g.(?_ 100026)_(15273144_ ?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	100,026	15,273,144
nssv15775850	Submitted genomic		NC_000010.10:g.(?_ 100026)_(15273144_ ?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	100,026	15,273,144

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
nssv15775839	GRCh37: NC_000010.10:g.(?_100026)_(15273144_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000848062.2, VCV000687363.2	3
nssv15775850	GRCh37: NC_000010.10:g.(?_100026)_(15273144_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000848090.2, VCV000687391.2	3

No genotype data were submitted for this variant

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