A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204777



Internal ID22353575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9392151..9401250hg38UCSC Ensembl
chr2:9532280..9541379hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4466n152
Supporting Variantsnssv14290178, nssv14290175, nssv14290174, nssv14290173, nssv14290177, nssv14290172, nssv14290179, nssv14290176, nssv14290180
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesASAP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204777
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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