A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978475



Internal ID19229615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:149917782..149929282hg38UCSC Ensembl
OuterchrX:149086000..149097500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3811501
hg1911501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115913
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978475
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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