A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504277



Internal ID281084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9940410..9942236hg38UCSC Ensembl
chr12:10093009..10094835hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381827
hg191827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052857
Samples
Known GenesLOC102467076
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504277
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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