A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526875



Internal ID22396258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231249801..231249949hg38UCSC Ensembl
chr2:232114514..232114662hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5032n152
Supporting Variantsnssv14298954, nssv14298956, nssv14298953, nssv14298336, nssv14298955
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesARMC9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526875
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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