A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203555



Internal ID22352543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170288051..170292750hg38UCSC Ensembl
chr6:170597139..170601838hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331895, nssv14331893, nssv14331894, nssv14331891, nssv14331889, nssv14331892, nssv14331890, nssv14331888, nssv14331896
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDLL1, FAM120B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203555
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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