A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523087



Internal ID15103694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179383601..179402838hg38UCSC Ensembl
Innerchr1:179352736..179371973hg19UCSC Ensembl
Innerchr1:177619359..177638596hg18UCSC Ensembl
Innerchr1:176084393..176103630hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3819238
hg1919238
hg1819238
hg1719238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698779
Samples
Known GenesAXDND1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523087
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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