A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3669488



Internal ID18621083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142867398..143010429hg38UCSC Ensembl
Innerchr7:142565153..142707516hg19UCSC Ensembl
Innerchr7:142275275..142417638hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38143032
hg19142364
hg18142364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030700
Supporting Variants
Samples
Known GenesC7orf34, EPHB6, KEL, TRPV5, TRPV6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3669488
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer