A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561118



Internal ID16348527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132688171..132693304hg38UCSC Ensembl
Innerchr12:133264757..133269890hg19UCSC Ensembl
Innerchr12:131774830..131779963hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385134
hg195134
hg185134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805926
Samples
Known GenesPXMP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561118
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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