A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545487



Internal ID15986210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12807759..12854043hg38UCSC Ensembl
Innerchr1:12867895..12913896hg19UCSC Ensembl
Innerchr1:12790482..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3846285
hg1946002
hg1846002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124n54
Supporting Variantsnssv1173745, nssv1173744
SamplesHGDP01368, 1780854357_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545487
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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