A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948755



Internal ID21368824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45969567..45969670hg38UCSC Ensembl
chr17:44046933..44047036hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15176035
SamplesHG002
Known GenesMAPT
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948755
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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