A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944921



Internal ID22720393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1542248..1543075hg38UCSC Ensembl
chr16:1592249..1593076hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372536
Samples
Known GenesIFT140, TMEM204
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944921
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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