A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523253



Internal ID15103860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179546937..179549324hg38UCSC Ensembl
Innerchr1:179516072..179518459hg19UCSC Ensembl
Innerchr1:177782695..177785082hg18UCSC Ensembl
Innerchr1:176247729..176250116hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382388
hg192388
hg182388
hg172388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698982
Samples
Known GenesAXDND1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523253
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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