A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194349



Internal ID22344671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18912995..18913083hg38UCSC Ensembl
chr2:19094261..19094349hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4512n152
Supporting Variantsnssv14288793, nssv14288796, nssv14288792, nssv14288794, nssv14288795, nssv14288791
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194349
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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