A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264



Internal ID15541698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65376537..65409596hg38UCSC Ensembl
Outerchr2:65603671..65636730hg19UCSC Ensembl
Outerchr2:65457175..65490234hg18UCSC Ensembl
Outerchr2:65515322..65548381hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg386970
hg196970
hg186970
hg176970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2758
Supporting Variants
SamplesNA18555
Known GenesSPRED2
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)nssv2264
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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