A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699297



Internal ID122963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74422951..74677087hg38UCSC Ensembl
chr14:74889654..75143790hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38254137
hg19254137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510286
Supporting Variants
Samples
Known GenesAREL1, ISCA2, LTBP2, MIR4709, NPC2, SYNDIG1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699297
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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