A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003061



Internal ID19191411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:133009771..133017872hg38UCSC Ensembl
OuterchrX:132143799..132151900hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg388102
hg198102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151637
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003061
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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