A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030432



Internal ID20597472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53096410..53104126hg38UCSC Ensembl
chr16:53130322..53138038hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg387717
hg197717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6506944
Supporting Variants
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030432
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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