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dbVar

Database of genomic structural variation

nsv7148079

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:81,780

Description:GRCh37/hg19 2p21(chr2:47612218-47693997)x1 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: 408 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):47,385,079-47,466,858

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7148079	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,385,079	47,466,858
nsv7148079	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	47,612,218	47,693,997

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842006	copy number loss	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV003329521.1, VCV002580316.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18842006	Remapped	Perfect	NC_000002.12:g.(?_ 47385079)_(4746685 8_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,385,079	47,466,858
nssv18842006	Submitted genomic		NC_000002.11:g.(?_ 47612218)_(4769399 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	47,612,218	47,693,997

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
nssv18842006	GRCh37: NC_000002.11:g.(?_47612218)_(47693997_?)del	copy number loss	unknown	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV003329521.1, VCV002580316.1	1

No genotype data were submitted for this variant

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