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dbVar

Database of genomic structural variation

nsv7094463

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:106,089

Description:
See descriptions for individual calls in download files

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: 567 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):27,926,107-28,032,183

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094463	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	27,926,107	28,032,183
nsv7094463	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	60,394	166,482
nsv7094463	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	60,394	166,482
nsv7094463	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	28,171,253	28,277,329

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792233	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003109324.2, VCV002422775.2
nssv18792236	duplication	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003109328.2, VCV002422779.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792233	Remapped	Good	NT_187660.1:g.(?_6 0394)_(166482_?)de l	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	60,394	166,482
nssv18792236	Remapped	Good	NT_187660.1:g.(?_6 0394)_(166482_?)du p	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	60,394	166,482
nssv18792233	Remapped	Good	NW_011332701.1:g.( ?_60394)_(166482_? )del	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	60,394	166,482
nssv18792236	Remapped	Good	NW_011332701.1:g.( ?_60394)_(166482_? )dup	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	60,394	166,482
nssv18792233	Remapped	Perfect	NC_000015.10:g.(?_ 27926107)_(2803218 3_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	27,926,107	28,032,183
nssv18792236	Remapped	Perfect	NC_000015.10:g.(?_ 27926107)_(2803218 3_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	27,926,107	28,032,183
nssv18792233	Submitted genomic		NC_000015.9:g.(?_2 8171253)_(28277329 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	28,171,253	28,277,329
nssv18792236	Submitted genomic		NC_000015.9:g.(?_2 8171253)_(28277329 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	28,171,253	28,277,329

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
nssv18792233	GRCh37: NC_000015.9:g.(?_28171253)_(28277329_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003109324.2, VCV002422775.2
nssv18792236	GRCh37: NC_000015.9:g.(?_28171253)_(28277329_?)dup	duplication	germline	not provided	Pathogenic	ClinVar	RCV003109328.2, VCV002422779.2

No genotype data were submitted for this variant

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