Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4683414

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:37,422

Description:NC_000002.12:g.(?_47445538)_(47482959_?)del 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: 216 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):47,445,538-47,482,959

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683414	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,445,538	47,482,959
nsv4683414	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	47,672,677	47,710,098

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212647	deletion	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001033647.2, VCV000833191.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212647	Remapped	Perfect	NC_000002.12:g.(?_ 47445538)_(4748295 9_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,445,538	47,482,959
nssv16212647	Submitted genomic		NC_000002.11:g.(?_ 47672677)_(4771009 8_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	47,672,677	47,710,098

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
nssv16212647	GRCh37: NC_000002.11:g.(?_47672677)_(47710098_?)del	deletion	germline	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001033647.2, VCV000833191.2

No genotype data were submitted for this variant

You are here: NCBI