A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5796



Internal ID15196922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:79103337..79121498hg38UCSC Ensembl
Outerchr2:79330463..79348624hg19UCSC Ensembl
Outerchr2:79183971..79202132hg18UCSC Ensembl
Outerchr2:79242118..79260279hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3818162
hg1918162
hg1818162
hg1718162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2796
Supporting Variants
SamplesNA19129
Known GenesREG1A
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)nssv5796
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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