A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182150



Internal ID20749190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63863444..63901765hg38UCSC Ensembl
chr17:61940804..61979125hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3838322
hg1938322
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526795
Supporting Variants
Samples
Known GenesCSH1, CSH2, GH2, TCAM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182150
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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