A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548321



Internal ID15989044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179486911..179489070hg38UCSC Ensembl
Innerchr1:179456046..179458205hg19UCSC Ensembl
Innerchr1:177722669..177724828hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382160
hg192160
hg182160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv651n54
Supporting Variantsnssv729363, nssv729362
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548321
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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