A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545500



Internal ID15986223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12820292..12854043hg38UCSC Ensembl
Innerchr1:12880153..12913896hg19UCSC Ensembl
Innerchr1:12802740..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3833752
hg1933744
hg1833744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127n54
Supporting Variantsnssv710135, nssv1173749
SamplesHGDP00662
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545500
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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