A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488956



Internal ID266248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103137270..103137496hg38UCSC Ensembl
chr7:102777717..102777943hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000559
Samples
Known GenesNAPEPLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488956
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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