A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646828



Internal ID21595133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75828429..75828429hg38UCSC Ensembl
chr17:73824510..73824510hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083674
SamplesHG01596
Known GenesUNC13D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646828
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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