A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546346



Internal ID15987069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583184..59584019hg38UCSC Ensembl
Innerchr1:60048856..60049691hg19UCSC Ensembl
Innerchr1:59821444..59822279hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38836
hg19836
hg18836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287n54
Supporting Variantsnssv715449, nssv715446, nssv715448, nssv715447, nssv715445
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546346
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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