A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657464



Internal ID21605769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44312700..44312700hg38UCSC Ensembl
chr17:42390068..42390068hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092421
SamplesHG00731
Known GenesRUNDC3A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657464
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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