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dbVar

Database of genomic structural variation

nsv1398247

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:42,534

Description:
NM_000251.1(MSH2):c.(?_-68)_1386+?del AND Lynch syndrome
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

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

Submitted genomic47,403,124-47,445,657

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv1398247	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000002.12	Chr2	47,403,124	47,445,657
nsv1398247	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000002.11	Chr2	47,630,263	47,672,796

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv8639601	deletion	Multiple	Multiple	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000075963.3, VCV000090468.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv8639601	Submitted genomic	NC_000002.12:g.(?_ 47403124)_(4744565 7_?)del	GRCh38 (hg38)	NC_000002.12	Chr2	47,403,124	47,445,657
nssv8639601	Submitted genomic	NC_000002.11:g.(?_ 47630263)_(4767279 6_?)del	GRCh37 (hg19)	NC_000002.11	Chr2	47,630,263	47,672,796

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
nssv8639601	GRCh37: NC_000002.11:g.(?_47630263)_(47672796_?)del, GRCh38: NC_000002.12:g.(?_47403124)_(47445657_?)del	deletion	germline	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000075963.3, VCV000090468.2

No genotype data were submitted for this variant

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