A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101651



Internal ID21278935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:12788290..12795651hg38UCSC Ensembl
InnerchrX:12806409..12813770hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg387362
hg197362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112941
Supporting Variants
Samplessample275
Known GenesPRPS2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101651
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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