A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998242



Internal ID18842931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155299986..155303787hg38UCSC Ensembl
OuterchrX:154529299..154533100hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146877
Supporting Variants
SamplesKWB1
Known GenesCLIC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998242
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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