A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7485



Internal ID15189693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37206792..37229104hg38UCSC Ensembl
Outerchr2:37433935..37456247hg19UCSC Ensembl
Outerchr2:37287439..37309751hg18UCSC Ensembl
Outerchr2:37345586..37367898hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg388776
hg198776
hg188776
hg178776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2684
Supporting Variants
SamplesNA12156
Known GenesCEBPZ
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)nssv7485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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