A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064502



Internal ID19153721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40252142..40275453hg38UCSC Ensembl
Innerchr19:40758049..40781360hg19UCSC Ensembl
Innerchr19:45449889..45473200hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3823312
hg1923312
hg1823312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3530n100
Supporting Variantsnssv3568215
Samples
Known GenesAKT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064502
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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