A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2127



Internal ID15546690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67488382..67520215hg38UCSC Ensembl
Outerchr17:65484498..65516331hg19UCSC Ensembl
Outerchr17:62914960..62946793hg18UCSC Ensembl
Outerchr17:62914960..62946793hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg389165
hg199165
hg189165
hg179165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1382
SamplesNA19240
Known GenesPITPNC1
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)nsv2127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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