A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502153



Internal ID279029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88423674..88423832hg38UCSC Ensembl
chr14:88890018..88890176hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697634
Samples
Known GenesSPATA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502153
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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