A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132793



Internal ID18937308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155296702..155302987hg38UCSC Ensembl
OuterchrX:154526000..154532300hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386286
hg196301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987584
SamplesKWS1
Known GenesCLIC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132793
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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