A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545073



Internal ID15985796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2401592..2496273hg38UCSC Ensembl
Innerchr1:2333031..2427712hg19UCSC Ensembl
Innerchr1:2322891..2417572hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3894682
hg1994682
hg1894682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n54
Supporting Variantsnssv1172582
SamplesHGDP00607
Known GenesPEX10, PLCH2, RER1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545073
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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