A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518637



Internal ID15445930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:95665164..95760463hg38UCSC Ensembl
InnerchrX:94920163..95015462hg19UCSC Ensembl
InnerchrX:94806819..94902118hg18UCSC Ensembl
InnerchrX:94726308..94821607hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3895300
hg1995300
hg1895300
hg1795300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696086
Samples
Known GenesMIR548AE1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518637
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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