A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4284



Internal ID15192325
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 Flag1
Merged StatusS
Merged Variantsnsv2118
Supporting Variants
SamplesNA12878
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)nssv4284
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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