A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021382



Internal ID20588422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81176001..81179800hg38UCSC Ensembl
chr14:81642345..81646144hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478712
Supporting Variants
Samples
Known GenesGTF2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021382
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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