A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5605



Internal ID15543838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55699906..55731902hg38UCSC Ensembl
Outerchr16:55733818..55765814hg19UCSC Ensembl
Outerchr16:54291319..54323315hg18UCSC Ensembl
Outerchr16:54291319..54323315hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg387001
hg197001
hg187001
hg177001
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1813
Supporting Variants
SamplesNA19129
Known GenesCES1P2, SLC6A2
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)nssv5605
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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