A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010988



Internal ID18753521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99184306..99523288hg38UCSC Ensembl
Innerchr4:100105463..100444445hg19UCSC Ensembl
Innerchr4:100324486..100663468hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38338983
hg19338983
hg18338983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5345n100
Supporting Variantsnssv3631004
Samples
Known GenesADH1A, ADH1B, ADH1C, ADH6, ADH7, C4orf17, LOC100507053
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010988
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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