A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548309



Internal ID15989032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179486510..179488938hg38UCSC Ensembl
Innerchr1:179455645..179458073hg19UCSC Ensembl
Innerchr1:177722268..177724696hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382429
hg192429
hg182429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv650n54
Supporting Variantsnssv729343
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548309
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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