A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545613



Internal ID15986336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15683999..15689289hg38UCSC Ensembl
Innerchr1:16010494..16015784hg19UCSC Ensembl
Innerchr1:15883081..15888371hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg385291
hg195291
hg185291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv710537
Samples
Known GenesPLEKHM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545613
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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