A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501813



Internal ID278703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7037504..7037570hg38UCSC Ensembl
chr12:7144808..7144874hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055078
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501813
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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