A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2182



Internal ID15194779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64357655..64376445hg38UCSC Ensembl
Outerchr17:59788748..59803272hg18UCSC Ensembl
Outerchr17:59788748..59803272hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg387140
hg187140
hg177140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2118
Supporting Variants
SamplesNA18555
Known GenesPECAM1
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)nssv2182
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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