A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6034



Internal ID15537830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158820237..158851644hg38UCSC Ensembl
Outerchr5:158247245..158278652hg19UCSC Ensembl
Outerchr5:158179823..158211230hg18UCSC Ensembl
Outerchr5:158179823..158211230hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg388030
hg198030
hg188030
hg178030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5094
Supporting Variants
SamplesNA12156
Known GenesEBF1
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)nssv6034
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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