A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652508



Internal ID21600813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12913644..12913644hg38UCSC Ensembl
chr17:12816961..12816961hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097229
SamplesHG00731
Known GenesARHGAP44
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652508
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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