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dbVar

Database of genomic structural variation

nsv5381486

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:79,837

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: 364 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):47,403,113-47,482,949

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381486	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,403,113	47,482,949
nsv5381486	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	47,630,252	47,710,088

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16865922	duplication	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Uncertain significance	ClinVar	RCV001294852.1, VCV000998931.1
nssv17974451	deletion	Multiple	Multiple	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001896855.3, VCV001401103.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16865922	Remapped	Perfect	NC_000002.12:g.(?_ 47403113)_(4748294 9_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,403,113	47,482,949
nssv17974451	Remapped	Perfect	NC_000002.12:g.(?_ 47403113)_(4748294 9_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,403,113	47,482,949
nssv16865922	Submitted genomic		NC_000002.11:g.(?_ 47630252)_(4771008 8_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	47,630,252	47,710,088
nssv17974451	Submitted genomic		NC_000002.11:g.(?_ 47630252)_(4771008 8_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	47,630,252	47,710,088

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
nssv16865922	GRCh37: NC_000002.11:g.(?_47630252)_(47710088_?)dup	duplication	germline	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Uncertain significance	ClinVar	RCV001294852.1, VCV000998931.1
nssv17974451	GRCh37: NC_000002.11:g.(?_47630252)_(47710088_?)del	deletion	germline	Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001896855.3, VCV001401103.4

No genotype data were submitted for this variant

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