A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402



Internal ID15203522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96963033..96977278hg38UCSC Ensembl
Outerchr6:97410909..97425154hg19UCSC Ensembl
Outerchr6:97517630..97531875hg18UCSC Ensembl
Outerchr6:97517630..97531875hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg386826
hg196826
hg186826
hg176826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10511
SamplesNA18956
Known GenesKLHL32
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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