A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612949



Internal ID16053672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144465443..144472775hg38UCSC Ensembl
Innerchr8:145690826..145698158hg19UCSC Ensembl
Innerchr8:145661634..145668966hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387333
hg197333
hg187333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12440n54
Supporting Variantsnssv1125808
Samples
Known GenesCYHR1, KIFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612949
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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