A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789448



Internal ID16083404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17548121..17607986hg38UCSC Ensembl
Innerchr12:17701055..17760920hg19UCSC Ensembl
Innerchr12:17592322..17652187hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3859866
hg1959866
hg1859866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557656
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789448
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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