A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297964



Internal ID22232201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238231711..238231711hg38UCSC Ensembl
chr2:239140352..239140352hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532755
Supporting Variants
SamplesHG00733
Known GenesLOC643387
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297964
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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