A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177961



Internal ID20745001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66153201..66189200hg38UCSC Ensembl
chr12:66546981..66582980hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3836000
hg1936000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457477
Supporting Variants
Samples
Known GenesIRAK3, TMBIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177961
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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