A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002674



Internal ID19188837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17343676..17347277hg38UCSC Ensembl
OuterchrX:17361799..17365400hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149163
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002674
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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