A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608825



Internal ID21557130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109177147..109177147hg38UCSC Ensembl
chr1:109719769..109719769hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060297
SamplesHG00732
Known GenesKIAA1324
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608825
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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