A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997789



Internal ID18810639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:92938642..94028074hg38UCSC Ensembl
Innerchr4:93859793..94949225hg19UCSC Ensembl
Innerchr4:94078816..95168248hg18UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg381089433
hg191089433
hg181089433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3630974
Samples
Known GenesATOH1, GRID2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997789
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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