A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003482



Internal ID18843890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:43671551..43675252hg38UCSC Ensembl
OuterchrX:43530799..43534500hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg383702
hg193702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150180
Supporting Variants
SamplesKWB1
Known GenesMAOA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003482
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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