A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734251



Internal ID16028207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198754786..198816365hg38UCSC Ensembl
Innerchr1:198723915..198785494hg19UCSC Ensembl
Innerchr1:196990538..197052117hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3861580
hg1961580
hg1861580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548904
Supporting Variants
Samples
Known GenesMIR181A1HG, PTPRC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734251
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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