A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546338



Internal ID15987061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583075..59584019hg38UCSC Ensembl
Innerchr1:60048747..60049691hg19UCSC Ensembl
Innerchr1:59821335..59822279hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38945
hg19945
hg18945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287n54
Supporting Variantsnssv715427, nssv715424, nssv715421, nssv715430, nssv715429, nssv715428, nssv715426, nssv715425, nssv715420, nssv715423, nssv715422
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546338
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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