A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219954



Internal ID22364808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32739564..32740227hg38UCSC Ensembl
chr20:31327371..31328034hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299854, nssv14299853, nssv14299851, nssv14299850, nssv14299852, nssv14299855
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00514
Known GenesCOMMD7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219954
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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