A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv475750



Internal ID15228503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122053347..122053347hg38UCSC Ensembl
chr12:122491253..122491253hg19UCSC Ensembl
chr12:120975636..120975636hg18UCSC Ensembl
chr12:120953973..120953973hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3020516
SamplesNA12878
Known GenesBCL7A
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv475750
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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