A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800048



Internal ID15747318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89708664..89709574hg38UCSC Ensembl
Innerchr12:90102441..90103351hg19UCSC Ensembl
Innerchr12:88626572..88627482hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38911
hg19911
hg18911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559716
Supporting Variants
Samples
Known GenesLINC00936
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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