A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2118



Internal ID15199995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64340635..64380275hg38UCSC Ensembl
Outerchr17:59771722..59807138hg18UCSC Ensembl
Outerchr17:59771722..59807138hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg384322
hg184322
hg174322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4284, nssv2182
SamplesNA12878, NA18555
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)nsv2118
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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