A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554031



Internal ID327227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53016776..53016827hg38UCSC Ensembl
chr6:52881574..52881625hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985937
Samples
Known GenesICK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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