A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511849



Internal ID288419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38500..163000hg38UCSC Ensembl
chr12:153001..272166hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38124501
hg19119166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054823
Samples
Known GenesIQSEC3, LOC574538
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511849
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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