A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554739



Internal ID327916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64540018..64540069hg38UCSC Ensembl
chr2:64767152..64767203hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914531
Samples
Known GenesAFTPH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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