A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4004015



Internal ID18847212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146814681..146823182hg38UCSC Ensembl
OuterchrX:145896199..145904700hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg388502
hg198502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151444
Supporting Variants
SamplesKWB1
Known GenesCXorf51A, CXorf51B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4004015
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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