A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5638695



Internal ID21587000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14347035..14347035hg38UCSC Ensembl
chr5:14347144..14347144hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123479
SamplesHG00731
Known GenesTRIO
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5638695
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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