A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522957



Internal ID8417232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:38263737..38281589hg38UCSC Ensembl
InnerchrX:38122990..38140842hg19UCSC Ensembl
InnerchrX:38007934..38025786hg18UCSC Ensembl
InnerchrX:37879207..37897059hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3817853
hg1917853
hg1817853
hg1717853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698626
Samples
Known GenesRPGR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522957
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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