A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508009



Internal ID284711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28610757..28610817hg38UCSC Ensembl
chr12:28763690..28763750hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055185
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508009
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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