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dbVar

Database of genomic structural variation

nsv1398176

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:20,045

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, Hampel et al. 2014, Hegde et al. 2013, Kalia et al. 2016, Kohlmann et al. 2004, Lu et al. 2014, Lynch et al. 2004, 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, Wagner et al. 2003, 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: 169 SVs from 32 studies. See in: genome view

Submitted genomic47,402,369-47,422,413

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv1398176	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000002.12	Chr2	47,402,369	47,422,413
nsv1398176	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000002.11	Chr2	47,629,508	47,649,552

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15122069	deletion	Multiple	Multiple	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000075991.3, VCV000090496.5
nssv8639530	deletion	Multiple	Multiple	LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I	Pathogenic	ClinVar	RCV000001841.5, VCV000090496.5

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15122069	Submitted genomic	NC_000002.12:g.474 02369_47422413del	GRCh38 (hg38)	NC_000002.12	Chr2	47,402,369	47,422,413
nssv8639530	Submitted genomic	NC_000002.12:g.474 02369_47422413del	GRCh38 (hg38)	NC_000002.12	Chr2	47,402,369	47,422,413
nssv15122069	Submitted genomic	NC_000002.11:g.476 29508_47649552del	GRCh37 (hg19)	NC_000002.11	Chr2	47,629,508	47,649,552
nssv8639530	Submitted genomic	NC_000002.11:g.476 29508_47649552del	GRCh37 (hg19)	NC_000002.11	Chr2	47,629,508	47,649,552

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
nssv15122069	GRCh37: NC_000002.11:g.47629508_47649552del, GRCh38: NC_000002.12:g.47402369_47422413del	deletion	germline	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000075991.3, VCV000090496.5
nssv8639530	GRCh37: NC_000002.11:g.47629508_47649552del, GRCh38: NC_000002.12:g.47402369_47422413del	deletion	see ClinVar for details	LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I	Pathogenic	ClinVar	RCV000001841.5, VCV000090496.5

No genotype data were submitted for this variant

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