A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470696



Internal ID248450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44369776..44371186hg38UCSC Ensembl
chr6:44337513..44338923hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984770
Samples
Known GenesSPATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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