A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050788



Internal ID18793319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92300848..92393238hg38UCSC Ensembl
Innerchr13:92953101..93045491hg19UCSC Ensembl
Innerchr13:91751102..91843492hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3892391
hg1992391
hg1892391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1730n100
Supporting Variantsnssv3525489
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)nsv1050788
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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