A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510654



Internal ID287265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21043472..21043678hg38UCSC Ensembl
chr14:21511631..21511837hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695319
Samples
Known GenesNDRG2, RNASE7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510654
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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