A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608258



Internal ID16395667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117702717..117753462hg38UCSC Ensembl
Innerchr7:117342771..117393516hg19UCSC Ensembl
Innerchr7:117130007..117180752hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3850746
hg1950746
hg1850746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155390
SamplesHGDP01267
Known GenesCTTNBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608258
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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