A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998975



Internal ID19194587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:131155825..131160026hg38UCSC Ensembl
OuterchrX:130289799..130294000hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151791
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998975
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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