A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496991



Internal ID274053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15817560..15817617hg38UCSC Ensembl
chr12:15970494..15970551hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054344
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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