A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147423



Internal ID19195533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46658764..46661165hg38UCSC Ensembl
OuterchrX:46518199..46520600hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000197
SamplesKWB1
Known GenesSLC9A7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147423
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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