A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5668



Internal ID15543762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:65626842..65658884hg38UCSC Ensembl
Outerchr17:63622960..63655002hg19UCSC Ensembl
Outerchr17:61053422..61085464hg18UCSC Ensembl
Outerchr17:61053422..61085464hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg387244
hg197244
hg187244
hg177244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2125
Supporting Variants
SamplesNA19129
Known GenesCEP112
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)nssv5668
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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