A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147373



Internal ID19202846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:23240982..23244383hg38UCSC Ensembl
OuterchrX:23259099..23262500hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg383402
hg193402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000147
SamplesKWB1
Known GenesLOC100873065
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147373
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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