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dbVar

Database of genomic structural variation

nsv4685914

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:52,837

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Church et al. 2001, Giardiello et al. 2014, Goggins et al. 2020, Goldberg et al. 2019, Green et al. 2013, Hegde et al. 2013, Kalia et al. 2016, Kohlmann et al. 2004, Lu et al. 2014, Menko et al. 2013, Mork et al. 2015, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, Robson et al. 2015, Seppälä et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004, Vasen et al. 2013, Vaughn et al. 2008

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: 255 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):47,429,942-47,482,778

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4685914	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,429,942	47,445,547	47,480,872	47,482,778
nsv4685914	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	47,657,081	47,672,686	47,708,011	47,709,917

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216859	deletion	Multiple	Multiple	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000076111.3, VCV000090615.6
nssv16216865	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000202060.5, VCV000090615.6
nssv16297030	deletion	Multiple	Multiple	Colorectal cancer, hereditary nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001269139.1, VCV000987807.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16216859	Remapped	Perfect	NC_000002.12:g.(47 429942_47445547)_( 47480872_47482778) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,429,942	47,445,547	47,480,872	47,482,778
nssv16216865	Remapped	Perfect	NC_000002.12:g.(47 429942_47445547)_( 47480872_47482778) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,429,942	47,445,547	47,480,872	47,482,778
nssv16297030	Remapped	Perfect	NC_000002.12:g.(47 429942_47445547)_( 47480872_47482778) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,429,942	47,445,547	47,480,872	47,482,778
nssv16216859	Submitted genomic		NC_000002.11:g.(47 657081_47672686)_( 47708011_47709917) del	GRCh37 (hg19)		NC_000002.11	Chr2	47,657,081	47,672,686	47,708,011	47,709,917
nssv16216865	Submitted genomic		NC_000002.11:g.(47 657081_47672686)_( 47708011_47709917) del	GRCh37 (hg19)		NC_000002.11	Chr2	47,657,081	47,672,686	47,708,011	47,709,917
nssv16297030	Submitted genomic		NC_000002.11:g.(47 657081_47672686)_( 47708011_47709917) del	GRCh37 (hg19)		NC_000002.11	Chr2	47,657,081	47,672,686	47,708,011	47,709,917

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
nssv16216859	GRCh37: NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del	deletion	germline	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000076111.3, VCV000090615.6
nssv16216865	GRCh37: NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV000202060.5, VCV000090615.6
nssv16297030	GRCh37: NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del	deletion	germline	Colorectal cancer, hereditary nonpolyposis; Hereditary nonpolyposis colon cancer	Pathogenic	ClinVar	RCV001269139.1, VCV000987807.1

No genotype data were submitted for this variant

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