A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545253



Internal ID15985976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6384218..6385638hg38UCSC Ensembl
Innerchr1:6444278..6445698hg19UCSC Ensembl
Innerchr1:6366865..6368285hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381421
hg191421
hg181421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79n54
Supporting Variantsnssv709200
Samples
Known GenesACOT7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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