A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040212



Internal ID21949555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82838378..82838490hg38UCSC Ensembl
chr17:80796254..80796366hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17619710
Samples
Known GenesTBCD, ZNF750
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040212
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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