A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999021



Internal ID19186972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:151023726..151027728hg38UCSC Ensembl
OuterchrX:150192199..150196200hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384003
hg194002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151837
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999021
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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