A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457247



Internal ID235296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168494641..168504677hg38UCSC Ensembl
chr6:168895321..168905357hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3810037
hg1910037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991055
Samples
Known GenesSMOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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