A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706064



Internal ID15442716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124590491..124595713hg38UCSC Ensembl
Innerchr3:124309338..124314560hg19UCSC Ensembl
Innerchr3:125792028..125797250hg18UCSC Ensembl
Innerchr3:125792028..125797250hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg385223
hg195223
hg185223
hg175223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522662
Supporting Variants
Samples
Known GenesKALRN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706064
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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