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dbVar

Database of genomic structural variation

nsv6636035

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:26,675

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Bougeard et al. 2003, Church et al. 2001, Giardiello et al. 2014, Goggins et al. 2020, Goldberg et al. 2019, Green et al. 2013, Hampel et al. 2014, Hegde et al. 2013, Kalia et al. 2016, Kets et al. 2009, Kohlmann et al. 2004, Lu et al. 2014, Menko et al. 2013, Miller et al. 2021, Miller et al. 2022, Mork et al. 2015, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, Robson et al. 2010, Robson et al. 2015, Seppälä et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004, Vasen et al. 2013, Weissman et al. 2011

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

Submitted genomic47,403,067-47,429,741

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv6636035	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000002.12	Chr2	47,403,067	47,416,429	47,429,741
nsv6636035	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000002.11	Chr2	47,630,206	47,643,569	47,656,880

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15124110	deletion	Multiple	Multiple	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000240269.1, VCV000254090.2
nssv18326450	deletion	Multiple	Multiple	LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I	Pathogenic	ClinVar	RCV002287890.1, VCV000254090.2
nssv18326451	deletion	Multiple	Multiple	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2; Mismatch repair cancer syndrome 2	Pathogenic	ClinVar	RCV002287891.1, VCV000254090.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15124110	Submitted genomic	NC_000002.12:g.(?_ 47403067)_(4741642 9_47429741)del	GRCh38 (hg38)	NC_000002.12	Chr2	47,403,067	47,416,429	47,429,741
nssv18326450	Submitted genomic	NC_000002.12:g.(?_ 47403067)_(4741642 9_47429741)del	GRCh38 (hg38)	NC_000002.12	Chr2	47,403,067	47,416,429	47,429,741
nssv18326451	Submitted genomic	NC_000002.12:g.(?_ 47403067)_(4741642 9_47429741)del	GRCh38 (hg38)	NC_000002.12	Chr2	47,403,067	47,416,429	47,429,741
nssv15124110	Submitted genomic	NC_000002.11:g.(?_ 47630206)_(4764356 9_47656880)del	GRCh37 (hg19)	NC_000002.11	Chr2	47,630,206	47,643,569	47,656,880
nssv18326450	Submitted genomic	NC_000002.11:g.(?_ 47630206)_(4764356 9_47656880)del	GRCh37 (hg19)	NC_000002.11	Chr2	47,630,206	47,643,569	47,656,880
nssv18326451	Submitted genomic	NC_000002.11:g.(?_ 47630206)_(4764356 9_47656880)del	GRCh37 (hg19)	NC_000002.11	Chr2	47,630,206	47,643,569	47,656,880

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
nssv15124110	GRCh37: NC_000002.11:g.(?_47630206)_(47643569_47656880)del, GRCh38: NC_000002.12:g.(?_47403067)_(47416429_47429741)del	deletion	germline	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000240269.1, VCV000254090.2
nssv18326450	GRCh37: NC_000002.11:g.(?_47630206)_(47643569_47656880)del, GRCh38: NC_000002.12:g.(?_47403067)_(47416429_47429741)del	deletion	germline	LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I	Pathogenic	ClinVar	RCV002287890.1, VCV000254090.2
nssv18326451	GRCh37: NC_000002.11:g.(?_47630206)_(47643569_47656880)del, GRCh38: NC_000002.12:g.(?_47403067)_(47416429_47429741)del	deletion	germline	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2; Mismatch repair cancer syndrome 2	Pathogenic	ClinVar	RCV002287891.1, VCV000254090.2

No genotype data were submitted for this variant

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