A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153406



Internal ID18848871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107158169..107161770hg38UCSC Ensembl
OuterchrX:106401399..106405000hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001323
SamplesKWB1
Known GenesNUP62CL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153406
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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