A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557742



Internal ID15998465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21426146..21439423hg38UCSC Ensembl
Innerchr12:21579080..21592357hg19UCSC Ensembl
Innerchr12:21470347..21483624hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3813278
hg1913278
hg1813278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175445
SamplesHGDP01167
Known GenesPYROXD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557742
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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