A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960267



Internal ID19211686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:87821200..87826000hg38UCSC Ensembl
OuterchrX:87076200..87081000hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110612
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960267
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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