A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496884



Internal ID273950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12847619..12862344hg38UCSC Ensembl
chr12:13000553..13015278hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3814726
hg1914726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688481
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496884
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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