A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053048



Internal ID19142267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91769467..91849304hg38UCSC Ensembl
Innerchr13:92421721..92501558hg19UCSC Ensembl
Innerchr13:91219722..91299559hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3879838
hg1979838
hg1879838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1729n100
Supporting Variantsnssv3525483
Samples
Known GenesGPC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053048
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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