A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5785



Internal ID15196935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37347524..37380543hg38UCSC Ensembl
Outerchr2:37574667..37607686hg19UCSC Ensembl
Outerchr2:37428171..37461190hg18UCSC Ensembl
Outerchr2:37486318..37519337hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg386268
hg196268
hg186268
hg176268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2686
Supporting Variants
SamplesNA19129
Known GenesQPCT
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)nssv5785
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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