A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502522



Internal ID20875768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81210237..81215069hg38UCSC Ensembl
chr16:81243842..81248674hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg384833
hg194833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18032841
Samples
Known GenesPKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502522
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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