A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18016492



Internal ID20583532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100991651..100992189hg38UCSC Ensembl
chr14:101457988..101458526hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499435
Supporting Variants
Samples
Known GenesSNORD114-30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18016492
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00068


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