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dbVar

Database of genomic structural variation

nsv3876912

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:70,991,811

Description:Single allele 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: 188389 SVs from 151 studies. See in: genome view

Remapped(Score: Good):30,822,844-101,814,654

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3876912	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	30,822,844	101,814,654
nsv3876912	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	31,115,047	102,354,857

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151655	duplication	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000677926.2, VCV000560049.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15151655	Remapped	Good	NC_000015.10:g.308 22844_101814654dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	30,822,844	101,814,654
nssv15151655	Submitted genomic		NC_000015.9:g.3111 5047_102354857dup	GRCh37 (hg19)		NC_000015.9	Chr15	31,115,047	102,354,857

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
nssv15151655	GRCh37: NC_000015.9:g.31115047_102354857dup	duplication	de novo	not provided	Pathogenic	ClinVar	RCV000677926.2, VCV000560049.2	3

No genotype data were submitted for this variant

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