A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978403



Internal ID19230512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:133010172..133015572hg38UCSC Ensembl
OuterchrX:132144200..132149600hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140067
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978403
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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