A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208162



Internal ID22356448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238633800..238633858hg38UCSC Ensembl
chr2:239542441..239542499hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5078n152
Supporting Variantsnssv14297989, nssv14297991, nssv14297990
SamplesHG00512, NA19238, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208162
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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