A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361245



Internal ID22252983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44499763..44501521hg38UCSC Ensembl
chr1:44965435..44967193hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197523
Supporting Variants
SamplesNA19238
Known GenesRNF220
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361245
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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