A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557658



Internal ID16345067
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 StatusM
Merged Variants
Supporting Variantsnssv789449
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557658
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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