A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192111



Internal ID20759151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81684265..81733126hg38UCSC Ensembl
chr12:82078044..82126905hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3848862
hg1948862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470905
Supporting Variants
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192111
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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