A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968140



Internal ID46071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61204115..61204166hg38UCSC Ensembl
chr5:60499942..60499993hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408362
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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