A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520250



Internal ID15100857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:12767890..12803775hg38UCSC Ensembl
InnerchrX:12786009..12821894hg19UCSC Ensembl
InnerchrX:12695930..12731815hg18UCSC Ensembl
InnerchrX:12545666..12581551hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3835886
hg1935886
hg1835886
hg1735886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662444, nssv690767, nssv662117
Samples
Known GenesPRPS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520250
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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