A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959798



Internal ID19214412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:116941132..116946932hg38UCSC Ensembl
OuterchrX:116075100..116080900hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119358
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959798
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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