A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518116



Internal ID15098723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:110180801..110387479hg38UCSC Ensembl
InnerchrX:109424029..109630707hg19UCSC Ensembl
InnerchrX:109310685..109517363hg18UCSC Ensembl
InnerchrX:109230174..109436852hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38206679
hg19206679
hg18206679
hg17206679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695532
Samples
Known GenesAMMECR1, SNORD96B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518116
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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