A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140028



Internal ID19273566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53889582..53897380hg38UCSC Ensembl
OuterchrX:53916000..53923800hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg387799
hg197801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978364
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140028
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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