A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021384



Internal ID20588424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81178154..81178582hg38UCSC Ensembl
chr14:81644498..81644926hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492611
Supporting Variants
Samples
Known GenesGTF2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021384
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00148


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