A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695319



Internal ID118985
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 StatusS
Merged Variantsnsv5510654
Supporting Variants
Samples
Known GenesNDRG2, RNASE7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695319
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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