A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471385



Internal ID249121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7658556..7672606hg38UCSC Ensembl
chr5:7658669..7672719hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3814051
hg1914051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963589
Samples
Known GenesADCY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471385
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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