A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940701



Internal ID22716113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27709787..27713872hg38UCSC Ensembl
chr16:27721108..27725193hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg384086
hg194086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388182
Samples
Known GenesKIAA0556
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940701
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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