A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518965



Internal ID15446258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:40569250..40754042hg38UCSC Ensembl
InnerchrX:40428502..40613295hg19UCSC Ensembl
InnerchrX:40313446..40498239hg18UCSC Ensembl
InnerchrX:40184732..40369549hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38184793
hg19184794
hg18184794
hg17184818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696434
Samples
Known GenesATP6AP2, CXorf38, MED14, MPC1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518965
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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