A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532894



Internal ID308805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82260874..82318874hg38UCSC Ensembl
chr15:82553215..82611210hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3858001
hg1957996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704051
Samples
Known GenesADAMTS7P1, EFTUD1, FAM154B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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