A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562723



Internal ID16350132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92042328..92232117hg38UCSC Ensembl
Innerchr13:92694581..92884370hg19UCSC Ensembl
Innerchr13:91492582..91682371hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38189790
hg19189790
hg18189790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148672
SamplesHGDP01027
Known GenesGPC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562723
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer