A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522068



Internal ID15449361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124621302..124627136hg38UCSC Ensembl
Innerchr3:124340149..124345983hg19UCSC Ensembl
Innerchr3:125822839..125828673hg18UCSC Ensembl
Innerchr3:125822839..125828673hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg385835
hg195835
hg185835
hg175835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694839
Samples
Known GenesKALRN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522068
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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