A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505664



Internal ID282431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7437245..7438720hg38UCSC Ensembl
chr12:7589841..7591316hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381476
hg191476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056045
Samples
Known GenesCD163L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505664
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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