A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563580



Internal ID336512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52596348..52596399hg38UCSC Ensembl
chr12:52990132..52990183hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058783
Samples
Known GenesKRT72
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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