A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140016



Internal ID19251886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17342577..17347277hg38UCSC Ensembl
OuterchrX:17360700..17365400hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978352
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140016
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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