A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624912



Internal ID21573217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35682347..35682347hg38UCSC Ensembl
chr5:35682449..35682449hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17127689
SamplesHG03486
Known GenesSPEF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624912
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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