A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547223



Internal ID16334632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104770001..104907399hg38UCSC Ensembl
Innerchr1:105312623..105450021hg19UCSC Ensembl
Innerchr1:105114146..105251544hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38137399
hg19137399
hg18137399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173083, nssv720217
SamplesNINDS_227
Known GenesMIR548H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547223
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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