A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2796



Internal ID15200673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:79081890..79121498hg38UCSC Ensembl
Outerchr2:79309016..79348624hg19UCSC Ensembl
Outerchr2:79162524..79202132hg18UCSC Ensembl
Outerchr2:79220671..79260279hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3839609
hg1939609
hg1839609
hg1739609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5796, nssv9570
SamplesNA18507, NA19129
Known GenesREG1A, REG1B
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)nsv2796
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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