A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729328



Internal ID15676598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179483560..179488301hg38UCSC Ensembl
Innerchr1:179452695..179457436hg19UCSC Ensembl
Innerchr1:177719318..177724059hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384742
hg194742
hg184742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548300
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)nssv729328
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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