A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6026



Internal ID15191152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141178582..141197633hg38UCSC Ensembl
Outerchr5:140558163..140577206hg19UCSC Ensembl
Outerchr5:140538347..140557390hg18UCSC Ensembl
Outerchr5:140538347..140557390hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3819560
hg1919560
hg1819560
hg1719560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5031
Supporting Variants
SamplesNA12156
Known GenesPCDHB10, PCDHB16, PCDHB8, PCDHB9
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)nssv6026
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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