A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2255



Internal ID15194912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24901823..24934935hg38UCSC Ensembl
Outerchr2:25124692..25157804hg19UCSC Ensembl
Outerchr2:24978196..25011308hg18UCSC Ensembl
Outerchr2:25036343..25069455hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386919
hg196919
hg186919
hg176919
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2646
Supporting Variants
SamplesNA18555
Known GenesADCY3
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)nssv2255
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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