A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522102



Internal ID15102709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243658062..243854063hg38UCSC Ensembl
Innerchr1:243821364..244017365hg19UCSC Ensembl
Innerchr1:241887987..242083988hg18UCSC Ensembl
Innerchr1:240147405..240343406hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38196002
hg19196002
hg18196002
hg17196002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694874
Samples
Known GenesAKT3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522102
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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