A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057



Internal ID15547628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178251009..178283755hg38UCSC Ensembl
Outerchr2:179115736..179148482hg19UCSC Ensembl
Outerchr2:178823982..178856728hg18UCSC Ensembl
Outerchr2:178941243..178973989hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386693
hg196693
hg186693
hg176693
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6888
SamplesNA12156
Known GenesOSBPL6
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)nsv3057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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