A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208935



Internal ID22357088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41191351..41194350hg38UCSC Ensembl
chr6:41159089..41162088hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14326397, nssv14326403, nssv14326398, nssv14326401, nssv14326395, nssv14326400, nssv14326399, nssv14326396, nssv14326402
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTREML2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208935
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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