A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520531



Internal ID15447824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:30101660..30214059hg38UCSC Ensembl
InnerchrX:30119777..30232176hg19UCSC Ensembl
InnerchrX:30029698..30142097hg18UCSC Ensembl
InnerchrX:29879434..29991833hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38112400
hg19112400
hg18112400
hg17112400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672168, nssv673463
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520531
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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