A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1506



Internal ID15544194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:77544425..77553755hg38UCSC Ensembl
Outerchr2:77771551..77780881hg19UCSC Ensembl
Outerchr2:77625059..77634389hg18UCSC Ensembl
Outerchr2:77683206..77692536hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg386143
hg196143
hg186143
hg176143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2792
Supporting Variants
SamplesNA19240
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)nssv1506
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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