A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545258



Internal ID15985981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6396412..6504096hg38UCSC Ensembl
Innerchr1:6456472..6564156hg19UCSC Ensembl
Innerchr1:6379059..6486743hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38107685
hg19107685
hg18107685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80n54
Supporting Variantsnssv709206, nssv709207
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)nsv545258
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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