A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186957



Internal ID20753997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91831801..91840300hg38UCSC Ensembl
chr14:92298145..92306644hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6513320
Supporting Variants
Samples
Known GenesTC2N
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186957
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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