A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456696



Internal ID234757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57048000..57090500hg38UCSC Ensembl
chr6:56912798..56955298hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3842501
hg1942501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983373
Samples
Known GenesKIAA1586, ZNF451
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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