A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048594



Internal ID19137813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18631932..18864679hg38UCSC Ensembl
Innerchr13:19206072..19438819hg19UCSC Ensembl
Innerchr13:18104072..18336819hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38232748
hg19232748
hg18232748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1603n100
Supporting Variantsnssv3527557
Samples
Known GenesANKRD20A9P, LINC00417
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048594
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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