A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2316



Internal ID15194111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228989304..229033824hg38UCSC Ensembl
Outerchr2:229854020..229898540hg19UCSC Ensembl
Outerchr2:229562264..229606784hg18UCSC Ensembl
Outerchr2:229679525..229724045hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3844521
hg1944521
hg1844521
hg1744521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195
Supporting Variants
SamplesNA18555
Known GenesPID1
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)nssv2316
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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