A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225857



Internal ID22368863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45938101..45962750hg38UCSC Ensembl
chr17:44015467..44040116hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3824650
hg1924650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391252, nssv14378439, nssv14382502, nssv14391343, nssv14375118, nssv14383362, nssv14376804, nssv14383180, nssv14375119
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMAPT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225857
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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