A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583178



Internal ID16370587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137030106..137132895hg38UCSC Ensembl
Innerchr2:137787676..137890465hg19UCSC Ensembl
Innerchr2:137504146..137606935hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38102790
hg19102790
hg18102790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920102
Samples
Known GenesTHSD7B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583178
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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