A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581242



Internal ID16021965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26973431..27151141hg38UCSC Ensembl
Innerchr2:27196299..27374009hg19UCSC Ensembl
Innerchr2:27049803..27227513hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38177711
hg19177711
hg18177711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6744n54
Supporting Variantsnssv904593
Samples
Known GenesABHD1, AGBL5, C2orf53, CGREF1, EMILIN1, KHK, MAPRE3, OST4, PREB, TCF23, TMEM214
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581242
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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