A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5613



Internal ID15543828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71282674..71296914hg38UCSC Ensembl
Outerchr16:71316577..71330817hg19UCSC Ensembl
Outerchr16:69874078..69888318hg18UCSC Ensembl
Outerchr16:69874078..69888318hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg387395
hg197395
hg187395
hg177395
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1861
Supporting Variants
SamplesNA19129
Known GenesCMTR2
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)nssv5613
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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