A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978469



Internal ID19233924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:128782822..128786822hg38UCSC Ensembl
OuterchrX:127916800..127920800hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115907
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978469
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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