A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647581



Internal ID21595886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:113294..113294hg38UCSC Ensembl
chr3:197900798..197900798hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083530
SamplesHG03125
Known GenesFAM157A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647581
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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