A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2768



Internal ID15547331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:69697855..69717176hg38UCSC Ensembl
Outerchr2:69924987..69944308hg19UCSC Ensembl
Outerchr2:69778491..69797812hg18UCSC Ensembl
Outerchr2:69836638..69855959hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg387039
hg197039
hg187039
hg177039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3022
SamplesNA18555
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)nsv2768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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