A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547618



Internal ID321447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244970649..244970664hg38UCSC Ensembl
chr1:245133951..245133966hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897743
Samples
Known GenesEFCAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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