A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18016490



Internal ID20583530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100982381..100983195hg38UCSC Ensembl
chr14:101448718..101449532hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6510182
Supporting Variants
Samples
Known GenesSNORD114-22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18016490
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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