A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225805



Internal ID22368822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41646801..41648900hg38UCSC Ensembl
chr8:41504320..41506419hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14340983, nssv14340985, nssv14340980, nssv14340986, nssv14340982, nssv14340979, nssv14340984, nssv14340987, nssv14340981
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNKX6-3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225805
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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