A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520690



Internal ID15101297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:20149203..20318909hg38UCSC Ensembl
InnerchrX:20167321..20337027hg19UCSC Ensembl
InnerchrX:20077242..20246948hg18UCSC Ensembl
InnerchrX:19926978..20096684hg17UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38169707
hg19169707
hg18169707
hg17169707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697558
Samples
Known GenesRPS6KA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520690
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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