A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv874258



Internal ID6281269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71767763..71827385hg19UCSC Ensembl
Outerchr2:71760554..71830689hg19UCSC Ensembl
Innerchr2:71621271..71680893hg18UCSC Ensembl
Outerchr2:71614062..71684197hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1530452
SamplesMS10311
Known GenesDYSF
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv874258
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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