A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140013



Internal ID19282511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:10966580..10969180hg38UCSC Ensembl
OuterchrX:10984700..10987300hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978349
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140013
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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