A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523024



Internal ID15450317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120545664..120546207hg38UCSC Ensembl
Innerchr2:121303240..121303783hg19UCSC Ensembl
Innerchr2:121019710..121020253hg18UCSC Ensembl
Innerchr2:121019470..121020013hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38544
hg19544
hg18544
hg17544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698703
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523024
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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