A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562215



Internal ID16349624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69828390..69832637hg38UCSC Ensembl
Innerchr13:70402522..70406769hg19UCSC Ensembl
Innerchr13:69300523..69304770hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg384248
hg194248
hg184248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3236n54
Supporting Variantsnssv813715, nssv813716, nssv813712, nssv813710, nssv813711, nssv813713, nssv813718, nssv813714, nssv813709, nssv813708, nssv813717
Samples
Known GenesKLHL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562215
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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