A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999543



Internal ID18844484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77471041..77472542hg38UCSC Ensembl
Outerchr10:79230799..79232300hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146339
Supporting Variants
SamplesKWB1
Known GenesKCNMA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999543
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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