A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654644



Internal ID21602949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44414115..44414115hg38UCSC Ensembl
chr17:42491483..42491483hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093785
SamplesHG00171
Known GenesGPATCH8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654644
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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