A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2300



Internal ID15193935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:152481423..152513213hg38UCSC Ensembl
Outerchr2:153337937..153369727hg19UCSC Ensembl
Outerchr2:153046183..153077973hg18UCSC Ensembl
Outerchr2:153163445..153195235hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg388237
hg198237
hg188237
hg178237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2979
Supporting Variants
SamplesNA18555
Known GenesFMNL2
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)nssv2300
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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