A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546342



Internal ID15987065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583126..59583907hg38UCSC Ensembl
Innerchr1:60048798..60049579hg19UCSC Ensembl
Innerchr1:59821386..59822167hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38782
hg19782
hg18782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv286n54
Supporting Variantsnssv715438, nssv715437, nssv715439, nssv715436
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546342
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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