A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548326



Internal ID16335735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179487224..179489070hg38UCSC Ensembl
Innerchr1:179456359..179458205hg19UCSC Ensembl
Innerchr1:177722982..177724828hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729373, nssv729375, nssv729374, nssv729371, nssv729372
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548326
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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