A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511842



Internal ID20885172
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 StatusM
Merged Variants
Supporting Variantsnssv18030677
Samples
Known GenesRPGRIP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511842
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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