A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4450



Internal ID15539177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:119963902..119996831hg38UCSC Ensembl
Outerchr2:120721478..120754407hg19UCSC Ensembl
Outerchr2:120437948..120470877hg18UCSC Ensembl
Outerchr2:120437708..120470637hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg386817
hg196817
hg186817
hg176817
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2893
Supporting Variants
SamplesNA12878
Known GenesPTPN4
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)nssv4450
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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