A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206934



Internal ID22355405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126551251..126555600hg38UCSC Ensembl
chr3:126270094..126274443hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384350
hg194350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6139n152
Supporting Variantsnssv14307938, nssv14307944, nssv14307942, nssv14307936, nssv14307940, nssv14307943, nssv14307939, nssv14307937, nssv14307941
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC3orf22
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206934
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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