A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512039



Internal ID288606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127070313..127071445hg38UCSC Ensembl
chr10:128868577..128869709hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039044
Samples
Known GenesDOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512039
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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