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dbVar

Database of genomic structural variation

nsv5673703

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:42,555

Description:NC_000002.11:g.(?_47630252)_(47672806_?)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: 258 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):47,403,113-47,445,667

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673703	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,403,113	47,445,667
nsv5673703	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	47,630,252	47,672,806

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172518	deletion	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001381340.1, VCV001069472.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172518	Remapped	Perfect	NC_000002.12:g.(?_ 47403113)_(4744566 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,403,113	47,445,667
nssv17172518	Submitted genomic		NC_000002.11:g.(?_ 47630252)_(4767280 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	47,630,252	47,672,806

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
nssv17172518	GRCh37: NC_000002.11:g.(?_47630252)_(47672806_?)del	deletion	germline	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001381340.1, VCV001069472.1

No genotype data were submitted for this variant

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