A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562805



Internal ID16350214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:97446728..97456107hg38UCSC Ensembl
Innerchr13:98098982..98108361hg19UCSC Ensembl
Innerchr13:96896983..96906362hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg389380
hg199380
hg189380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3332n54
Supporting Variantsnssv817590, nssv817591, nssv817588, nssv817592, nssv817589
Samples
Known GenesRAP2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562805
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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