A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2995



Internal ID15547560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159431346..159464643hg38UCSC Ensembl
Outerchr2:160287857..160321154hg19UCSC Ensembl
Outerchr2:159996103..160029400hg18UCSC Ensembl
Outerchr2:160113364..160146661hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386434
hg196434
hg186434
hg176434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4473
SamplesNA12878
Known GenesBAZ2B
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)nsv2995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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