A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2018



Internal ID15541301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:126269030..126307893hg38UCSC Ensembl
Outerchr12:126753576..126792439hg19UCSC Ensembl
Outerchr12:125319529..125358392hg18UCSC Ensembl
Outerchr12:125278456..125317319hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3838864
hg1938864
hg1838864
hg1738864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv923
Supporting Variants
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)nssv2018
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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