A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509134



Internal ID285799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55717699..55717755hg38UCSC Ensembl
chr12:56111483..56111539hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056633
Samples
Known GenesBLOC1S1, BLOC1S1-RDH5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509134
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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