A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545252



Internal ID15985975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6382791..6385692hg38UCSC Ensembl
Innerchr1:6442851..6445752hg19UCSC Ensembl
Innerchr1:6365438..6368339hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382902
hg192902
hg182902
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n54
Supporting Variantsnssv709199, nssv709198
Samples
Known GenesACOT7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545252
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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