A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv886



Internal ID15206221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111414979..111449807hg38UCSC Ensembl
Outerchr12:111852783..111887611hg19UCSC Ensembl
Outerchr12:110337166..110371994hg18UCSC Ensembl
Outerchr12:110315503..110350331hg17UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3834829
hg1934829
hg1834829
hg1734829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9079
SamplesNA12156
Known GenesSH2B3
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)nsv886
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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