A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545751



Internal ID16333160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22562710..22564428hg38UCSC Ensembl
Innerchr1:22889203..22890921hg19UCSC Ensembl
Innerchr1:22761790..22763508hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381719
hg191719
hg181719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n54
Supporting Variantsnssv711299
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545751
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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