A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545259



Internal ID15985982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6396412..6512115hg38UCSC Ensembl
Innerchr1:6456472..6572175hg19UCSC Ensembl
Innerchr1:6379059..6494762hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38115704
hg19115704
hg18115704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80n54
Supporting Variantsnssv1173651
Samples1780862021_A
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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