A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729377



Internal ID15676647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179487224..179490419hg38UCSC Ensembl
Innerchr1:179456359..179459554hg19UCSC Ensembl
Innerchr1:177722982..177726177hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg383196
hg193196
hg183196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548328
Supporting Variants
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv729377
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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