A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560178



Internal ID16000901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111534475..111541870hg38UCSC Ensembl
Innerchr12:111972279..111979674hg19UCSC Ensembl
Innerchr12:110456662..110464057hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg387396
hg197396
hg187396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2866n54
Supporting Variantsnssv802036, nssv802038, nssv802037
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560178
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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