A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18030677



Internal ID20597717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53617912..53625114hg38UCSC Ensembl
chr16:53651824..53659026hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg387203
hg197203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511842
Supporting Variants
Samples
Known GenesRPGRIP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18030677
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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