A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557679



Internal ID330770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48721858..48721896hg38UCSC Ensembl
chr8:49634417..49634455hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010895
Samples
Known GenesEFCAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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