A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994050



Internal ID18895480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3617051..3617137hg38UCSC Ensembl
OuterchrX:3535092..3535178hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142564
Supporting Variants
SamplesKWS2
Known GenesPRKX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994050
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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