A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044551



Internal ID19133770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:25745473..25881000hg38UCSC Ensembl
Innerchr13:26319611..26455138hg19UCSC Ensembl
Innerchr13:25217611..25353138hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38135528
hg19135528
hg18135528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523208
Samples
Known GenesATP8A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044551
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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