A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559749



Internal ID16347158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90807717..90849110hg38UCSC Ensembl
Innerchr12:91201494..91242887hg19UCSC Ensembl
Innerchr12:89725625..89767018hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3841394
hg1941394
hg1841394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2783n54
Supporting Variantsnssv1175732
SamplesHGDP01030
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559749
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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