A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193441



Internal ID20760481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7765865..7772938hg38UCSC Ensembl
chr17:7669183..7676256hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387074
hg197074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6498097
Supporting Variants
Samples
Known GenesDNAH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193441
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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