A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488878



Internal ID266172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48645471..48653087hg38UCSC Ensembl
chr7:48685067..48692683hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg387617
hg197617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995815
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488878
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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