A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555808



Internal ID328958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28438963..28439014hg38UCSC Ensembl
chr13:29013100..29013151hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg385979
hg195979
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686481
Samples
Known GenesFLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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