A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007376



Internal ID18749907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67827765..68142484hg38UCSC Ensembl
Innerchr4:68693483..69008202hg19UCSC Ensembl
Innerchr4:68376078..68690797hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38314720
hg19314720
hg18314720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3740198
Samples
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11D, TMPRSS11F, TMPRSS11GP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007376
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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