A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998639



Internal ID19188033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:149767338..149790638hg38UCSC Ensembl
OuterchrX:148848999..148872300hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3823301
hg1923302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149848
Supporting Variants
SamplesKWB1
Known GenesHSFX1, HSFX2, MAGEA9, MAGEA9B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998639
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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