A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603105



Internal ID16043828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51871477..51871918hg38UCSC Ensembl
Innerchr6:51736275..51736716hg19UCSC Ensembl
Innerchr6:51844234..51844675hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38442
hg19442
hg18442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10660n54
Supporting Variantsnssv1059613, nssv1059612, nssv1059611
Samples
Known GenesPKHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603105
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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