A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209149



Internal ID22357268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157147198..157147576hg38UCSC Ensembl
chr6:157468332..157468710hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14329678, nssv14329679, nssv14329677, nssv14329682, nssv14329680, nssv14329676, nssv14329675, nssv14329681, nssv14329683
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARID1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209149
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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