A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545260



Internal ID15985983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6401470..6500303hg38UCSC Ensembl
Innerchr1:6461530..6560363hg19UCSC Ensembl
Innerchr1:6384117..6482950hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3898834
hg1998834
hg1898834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80n54
Supporting Variantsnssv709208
Samples
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545260
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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