A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483343



Internal ID260782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48633382..48633459hg38UCSC Ensembl
chr7:48672978..48673055hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995813
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483343
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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