A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584312



Internal ID16371721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211181194..211236973hg38UCSC Ensembl
Innerchr2:212045919..212101698hg19UCSC Ensembl
Innerchr2:211754164..211809943hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3855780
hg1955780
hg1855780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151168
SamplesHGDP00060
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584312
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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