A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800744



Internal ID15748014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148992..94150182hg38UCSC Ensembl
Innerchr12:94542768..94543958hg19UCSC Ensembl
Innerchr12:93066899..93068089hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381191
hg191191
hg181191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559803
Supporting Variants
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800744
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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