A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5639312



Internal ID21587617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127436145..127436145hg38UCSC Ensembl
chr5:126771837..126771837hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386144
hg196144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17133890
SamplesNA24385
Known GenesMEGF10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5639312
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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