A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298194



Internal ID22137237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227911240..227911305hg38UCSC Ensembl
chr2:228775956..228776021hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190704
Supporting Variants
SamplesHG00513
Known GenesDAW1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298194
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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