A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038347



Internal ID19127566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68920202..69171490hg38UCSC Ensembl
Innerchr13:69494334..69745622hg19UCSC Ensembl
Innerchr13:68392335..68643623hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38251289
hg19251289
hg18251289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529282
Samples
Known GenesMIR548H4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038347
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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