A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110592



Internal ID18902679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3653759..3659159hg38UCSC Ensembl
OuterchrX:3571800..3577200hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960246
SamplesKWS1
Known GenesPRKX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110592
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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