A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396728



Internal ID176142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44418005..44418056hg38UCSC Ensembl
chr5:44418107..44418158hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965415
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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