A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190948



Internal ID22341731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42961801..42967775hg38UCSC Ensembl
chr6:42929539..42935513hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385975
hg195975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14326484, nssv14326491, nssv14326483, nssv14326490, nssv14326489, nssv14326485, nssv14326488, nssv14326487, nssv14326486
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGNMT, PEX6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190948
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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