A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559103



Internal ID16346512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59989288..60089826hg38UCSC Ensembl
Innerchr12:60383069..60483607hg19UCSC Ensembl
Innerchr12:58669336..58769874hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38100539
hg19100539
hg18100539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796728
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559103
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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