A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943083



Internal ID29375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185105587..185110921hg38UCSC Ensembl
chr3:184823375..184828709hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg385335
hg195335
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147171
Supporting Variants
Samples
Known GenesC3orf70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943083
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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