A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540596



Internal ID315339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12119179..12119179hg38UCSC Ensembl
chr10:12161178..12161178hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg382560
hg192560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029223
Samples
Known GenesDHTKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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