Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv1398089

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:1,158

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, 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: 159 SVs from 37 studies. See in: genome view

Submitted genomic5,989,094-5,990,251

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv1398089	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000007.14	Chr7	5,989,094	5,990,251
nsv1398089	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000007.13	Chr7	6,028,725	6,029,882

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17956030	deletion	Multiple	Multiple	LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I	not provided	ClinVar	RCV001804829.2, VCV000091385.5
nssv18326670	deletion	Multiple	Multiple	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Pathogenic	ClinVar	RCV002381389.1, VCV000091385.5
nssv8639439	deletion	Multiple	Multiple	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000076904.3, VCV000091385.5

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17956030	Submitted genomic	NC_000007.14:g.598 9094_5990251del	GRCh38 (hg38)	NC_000007.14	Chr7	5,989,094	5,990,251
nssv18326670	Submitted genomic	NC_000007.14:g.598 9094_5990251del	GRCh38 (hg38)	NC_000007.14	Chr7	5,989,094	5,990,251
nssv8639439	Submitted genomic	NC_000007.14:g.598 9094_5990251del	GRCh38 (hg38)	NC_000007.14	Chr7	5,989,094	5,990,251
nssv17956030	Submitted genomic	NC_000007.13:g.602 8725_6029882del	GRCh37 (hg19)	NC_000007.13	Chr7	6,028,725	6,029,882
nssv18326670	Submitted genomic	NC_000007.13:g.602 8725_6029882del	GRCh37 (hg19)	NC_000007.13	Chr7	6,028,725	6,029,882
nssv8639439	Submitted genomic	NC_000007.13:g.602 8725_6029882del	GRCh37 (hg19)	NC_000007.13	Chr7	6,028,725	6,029,882

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17956030	GRCh37: NC_000007.13:g.6028725_6029882del, GRCh38: NC_000007.14:g.5989094_5990251del	deletion	germline	LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I	not provided	ClinVar	RCV001804829.2, VCV000091385.5
nssv18326670	GRCh37: NC_000007.13:g.6028725_6029882del, GRCh38: NC_000007.14:g.5989094_5990251del	deletion	germline	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Pathogenic	ClinVar	RCV002381389.1, VCV000091385.5
nssv8639439	GRCh37: NC_000007.13:g.6028725_6029882del, GRCh38: NC_000007.14:g.5989094_5990251del	deletion	germline	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000076904.3, VCV000091385.5

No genotype data were submitted for this variant

You are here: NCBI