A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528290



Internal ID15108897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129635682..130429852hg38UCSC Ensembl
InnerchrX:128769659..129563826hg19UCSC Ensembl
InnerchrX:128597340..129391507hg18UCSC Ensembl
InnerchrX:128495194..129289361hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38794171
hg19794168
hg18794168
hg17794168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704864
Samples
Known GenesAIFM1, APLN, BCORL1, ELF4, GPR119, RAB33A, RBMX2, SASH3, SLC25A14, UTP14A, XPNPEP2, ZDHHC9, ZNF280C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528290
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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