A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642992



Internal ID21591297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179849444..179849444hg38UCSC Ensembl
chr5:179276444..179276444hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137541
SamplesNA12878
Known GenesC5orf45
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5642992
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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