A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521330



Internal ID297626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31097430..31097939hg38UCSC Ensembl
chr18:28677393..28677902hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717054
Samples
Known GenesDSC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521330
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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