A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498175



Internal ID275177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50947113..50973098hg38UCSC Ensembl
chr12:51340896..51366881hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3825986
hg1925986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058539
Samples
Known GenesHIGD1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498175
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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