A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545243



Internal ID15985966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6379308..6385530hg38UCSC Ensembl
Innerchr1:6439368..6445590hg19UCSC Ensembl
Innerchr1:6361955..6368177hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg386223
hg196223
hg186223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv77n54
Supporting Variantsnssv709157, nssv709158, nssv709159
Samples
Known GenesACOT7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545243
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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