A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2011



Internal ID15194608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104969647..105001126hg38UCSC Ensembl
Outerchr12:105363425..105394904hg19UCSC Ensembl
Outerchr12:103887555..103919034hg18UCSC Ensembl
Outerchr12:103865892..103897371hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3831480
hg1931480
hg1831480
hg1731480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv869
Supporting Variants
SamplesNA18555
Known GenesC12orf45
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)nssv2011
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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