A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3009



Internal ID15200889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:162172826..162205550hg38UCSC Ensembl
Outerchr2:163029336..163062060hg19UCSC Ensembl
Outerchr2:162737582..162770306hg18UCSC Ensembl
Outerchr2:162854843..162887567hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386704
hg196704
hg186704
hg176704
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6881
SamplesNA12156
Known GenesFAP
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)nsv3009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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