A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547589



Internal ID16334998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117336444..117338902hg38UCSC Ensembl
Innerchr1:117879066..117881524hg19UCSC Ensembl
Innerchr1:117680589..117683047hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg382459
hg192459
hg182459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv520n54
Supporting Variantsnssv722867, nssv722868, nssv722870, nssv722869
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547589
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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