A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560188



Internal ID16347597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111538972..111541704hg38UCSC Ensembl
Innerchr12:111976776..111979508hg19UCSC Ensembl
Innerchr12:110461159..110463891hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382733
hg192733
hg182733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2870n54
Supporting Variantsnssv802192, nssv802163, nssv802156, nssv802174, nssv802172, nssv802164, nssv802180, nssv802153, nssv802178, nssv802185, nssv802193, nssv802157, nssv802166, nssv802161, nssv802158, nssv802196, nssv802168, nssv802171, nssv802183, nssv802187, nssv802162, nssv802188, nssv802191, nssv802175, nssv802159, nssv802170, nssv802154, nssv802179, nssv802186, nssv802160, nssv802194, nssv802189, nssv802181, nssv802176, nssv802155, nssv802173, nssv802152, nssv802182, nssv802165, nssv802195, nssv802197, nssv802169, nssv802184, nssv802177, nssv802190, nssv802167
Samples
Known GenesATXN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560188
Frequency
Sample Size17421
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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