A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173083



Internal ID15880564
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 StatusS
Merged Variantsnsv547223
Supporting Variants
SamplesNINDS_227
Known GenesMIR548H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173083
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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