A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125074



Internal ID19254884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1641307..1642607hg38UCSC Ensembl
OuterchrX:1760200..1761500hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977880
SamplesKWS2
Known GenesASMT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125074
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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