A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049684



Internal ID18792215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69552739..69759313hg38UCSC Ensembl
Innerchr13:70126871..70333445hg19UCSC Ensembl
Innerchr13:69024872..69231446hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38206575
hg19206575
hg18206575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529286
Samples
Known GenesKLHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049684
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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