A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508096



Internal ID284796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71632542..71639598hg38UCSC Ensembl
chr14:72099259..72106315hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg387057
hg197057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697409
Samples
Known GenesSIPA1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508096
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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