A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522113



Internal ID15449406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:147276487..147350670hg38UCSC Ensembl
InnerchrX:146358005..146432188hg19UCSC Ensembl
InnerchrX:146165697..146239880hg18UCSC Ensembl
InnerchrX:146063551..146137734hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3874184
hg1974184
hg1874184
hg1774184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694886
Samples
Known GenesMIR514A1, MIR514A2, MIR514A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522113
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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