A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583708



Internal ID16371117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177979223..177982291hg38UCSC Ensembl
Innerchr2:178843950..178847018hg19UCSC Ensembl
Innerchr2:178552196..178555264hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383069
hg193069
hg183069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7181n54
Supporting Variantsnssv927018
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583708
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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