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dbVar

Database of genomic structural variation

nsv4683114

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:22,042

Description:NC_000015.10:g.(?_32696494)_(32718535_?)dup AND Familial colorectal cancer
Publication(s):No authors et al. 2020, No authors et al. 2021

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: 172 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):32,696,494-32,718,535

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683114	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	32,696,494	32,718,535
nsv4683114	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	32,988,695	33,010,736

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213513	duplication	Multiple	Multiple	COLORECTAL CANCER; COLORECTAL CANCER; CRC	Uncertain significance	ClinVar	RCV001031766.4, VCV000831190.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213513	Remapped	Perfect	NC_000015.10:g.(?_ 32696494)_(3271853 5_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	32,696,494	32,718,535
nssv16213513	Submitted genomic		NC_000015.9:g.(?_3 2988695)_(33010736 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	32,988,695	33,010,736

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
nssv16213513	GRCh37: NC_000015.9:g.(?_32988695)_(33010736_?)dup	duplication	germline	COLORECTAL CANCER; COLORECTAL CANCER; CRC	Uncertain significance	ClinVar	RCV001031766.4, VCV000831190.4

No genotype data were submitted for this variant

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