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dbVar

Database of genomic structural variation

nsv6312785

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:3,587

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: 187 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):6,005,882-6,009,468

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312785	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	6,005,882	6,009,468
nsv6312785	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	6,045,513	6,049,099

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968779	deletion	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001942184.2, VCV001455078.2
nssv17972469	duplication	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Uncertain significance	ClinVar	RCV001975551.2, VCV001471106.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968779	Remapped	Perfect	NC_000007.14:g.(?_ 6005882)_(6009468_ ?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,005,882	6,009,468
nssv17972469	Remapped	Perfect	NC_000007.14:g.(?_ 6005882)_(6009468_ ?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,005,882	6,009,468
nssv17968779	Submitted genomic		NC_000007.13:g.(?_ 6045513)_(6049099_ ?)del	GRCh37 (hg19)		NC_000007.13	Chr7	6,045,513	6,049,099
nssv17972469	Submitted genomic		NC_000007.13:g.(?_ 6045513)_(6049099_ ?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	6,045,513	6,049,099

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
nssv17968779	GRCh37: NC_000007.13:g.(?_6045513)_(6049099_?)del	deletion	germline	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001942184.2, VCV001455078.2
nssv17972469	GRCh37: NC_000007.13:g.(?_6045513)_(6049099_?)dup	duplication	germline	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Uncertain significance	ClinVar	RCV001975551.2, VCV001471106.2

No genotype data were submitted for this variant

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