A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5789



Internal ID15543616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53571390..53604640hg38UCSC Ensembl
Outerchr2:53798527..53831777hg19UCSC Ensembl
Outerchr2:53652031..53685281hg18UCSC Ensembl
Outerchr2:53710178..53743428hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg386024
hg196024
hg186024
hg176024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2729
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5789
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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