A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554518



Internal ID327701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56647982..56648017hg38UCSC Ensembl
chr4:57514148..57514183hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951100
Samples
Known GenesHOPX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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