A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522227



Internal ID15102834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118420661..118534120hg38UCSC Ensembl
InnerchrX:117554624..117668083hg19UCSC Ensembl
InnerchrX:117438652..117552111hg18UCSC Ensembl
InnerchrX:117336506..117449965hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38113460
hg19113460
hg18113460
hg17113460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695004
Samples
Known GenesDOCK11, WDR44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522227
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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