A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512504



Internal ID289055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22867135..22867831hg38UCSC Ensembl
chr15:23005237..23005933hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698551
Samples
Known GenesNIPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512504
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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