A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521472



Internal ID15102079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:74436580..74658266hg38UCSC Ensembl
InnerchrX:73656415..73878101hg19UCSC Ensembl
InnerchrX:73573140..73794826hg18UCSC Ensembl
InnerchrX:73439436..73661122hg17UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38221687
hg19221687
hg18221687
hg17221687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698083
Samples
Known GenesRLIM, SLC16A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521472
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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