A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546393



Internal ID15987116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61648509..61654909hg38UCSC Ensembl
Innerchr1:62114181..62120581hg19UCSC Ensembl
Innerchr1:61886769..61893169hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386401
hg196401
hg186401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n54
Supporting Variantsnssv715970
Samples
Known GenesMGC34796
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546393
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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