A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947114



Internal ID22722616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85042228..85046441hg38UCSC Ensembl
chr16:85075834..85080047hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg384214
hg194214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372365
Samples
Known GenesKIAA0513
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947114
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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