A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140056



Internal ID19257366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:110596972..110612172hg38UCSC Ensembl
OuterchrX:109840200..109855400hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3815201
hg1915201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978392
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140056
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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