A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520230



Internal ID15447523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31592958..31901542hg38UCSC Ensembl
InnerchrX:31611075..31919659hg19UCSC Ensembl
InnerchrX:31520996..31829580hg18UCSC Ensembl
InnerchrX:31370732..31679316hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38308585
hg19308585
hg18308585
hg17308585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697295
Samples
Known GenesDMD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520230
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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