A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999679



Internal ID19187513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:12858580..12865081hg38UCSC Ensembl
OuterchrX:12876699..12883200hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg386502
hg196502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152498
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999679
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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