A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503758



Internal ID280573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22854604..22857252hg38UCSC Ensembl
chr15:23015816..23018464hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg382649
hg192649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698550
Samples
Known GenesNIPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503758
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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