A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545078



Internal ID15985801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2434877..2499618hg38UCSC Ensembl
Innerchr1:2366316..2431057hg19UCSC Ensembl
Innerchr1:2356176..2420917hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3864742
hg1964742
hg1864742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1172584
SamplesHGDP00823
Known GenesPLCH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545078
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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