A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110597



Internal ID18909291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19942082..19944382hg38UCSC Ensembl
OuterchrX:19960200..19962500hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960251
SamplesKWS1
Known GenesCXorf23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110597
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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