A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004181



Internal ID19093398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98287001..98608425hg38UCSC Ensembl
Innerchr4:99208152..99529576hg19UCSC Ensembl
Innerchr4:99427175..99748599hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38321425
hg19321425
hg18321425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3630997
Samples
Known GenesRAP1GDS1, TSPAN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004181
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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