A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147222



Internal ID346404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104063431..104070179hg38UCSC Ensembl
chr5:103399132..103405880hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg386749
hg196749
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972137
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147222
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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