A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18032792



Internal ID20599832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81051036..81103535hg38UCSC Ensembl
chr16:81084641..81137140hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3852500
hg1952500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6509218
Supporting Variants
Samples
Known GenesC16orf46, GCSH, PKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18032792
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00025


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