A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789449



Internal ID16083405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17690638..17765991hg38UCSC Ensembl
Innerchr12:17843572..17918925hg19UCSC Ensembl
Innerchr12:17734839..17810192hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3875354
hg1975354
hg1875354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557658
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)nssv789449
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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