A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494487



Internal ID271628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29001810..29003099hg38UCSC Ensembl
chr12:29154743..29156032hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057470
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494487
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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