A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967573



Internal ID22742508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53649202..53649202hg38UCSC Ensembl
chr16:53683114..53683114hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387912
Samples
Known GenesRPGRIP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967573
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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