A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558752



Internal ID16346161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44964021..44992615hg38UCSC Ensembl
Innerchr12:45357804..45386398hg19UCSC Ensembl
Innerchr12:43644071..43672665hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828595
hg1928595
hg1828595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2601n54
Supporting Variantsnssv1175471
Samples1780862470_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558752
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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