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dbVar

Database of genomic structural variation

nsv7097748

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:61,778

Description:NC_000007.13:g.(?_6036937)_(6098714_?)dup AND Hereditary nonpolyposis colorectal neoplasms

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

Remapped(Score: Perfect):5,997,306-6,059,083

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097748	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	5,997,306	6,059,083
nsv7097748	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	6,036,937	6,098,714

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789351	duplication	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Uncertain significance	ClinVar	RCV003111392.2, VCV002423250.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789351	Remapped	Perfect	NC_000007.14:g.(?_ 5997306)_(6059083_ ?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	5,997,306	6,059,083
nssv18789351	Submitted genomic		NC_000007.13:g.(?_ 6036937)_(6098714_ ?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	6,036,937	6,098,714

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
nssv18789351	GRCh37: NC_000007.13:g.(?_6036937)_(6098714_?)dup	duplication	germline	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Uncertain significance	ClinVar	RCV003111392.2, VCV002423250.2

No genotype data were submitted for this variant

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