A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5629166



Internal ID21577471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6616678..6616678hg38UCSC Ensembl
chr5:6616791..6616791hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146758
SamplesHG00731
Known GenesNSUN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5629166
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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