A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18032819



Internal ID20599859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81139892..81236510hg38UCSC Ensembl
chr16:81173497..81270115hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3896619
hg1996619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515356
Supporting Variants
Samples
Known GenesPKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18032819
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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