A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458580



Internal ID236601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36462828..36467454hg38UCSC Ensembl
chr6:36430605..36435231hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg384627
hg194627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981337
Samples
Known GenesKCTD20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458580
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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