A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993173



Internal ID19235461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:25770783..25779983hg38UCSC Ensembl
OuterchrX:25788900..25798100hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg389201
hg199201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141667
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993173
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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