A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543015



Internal ID317362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6633858..6633858hg38UCSC Ensembl
chr1:6693918..6693918hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906393
Samples
Known GenesTHAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543015
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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