A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5641983



Internal ID21590288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132208397..132208397hg38UCSC Ensembl
chr5:131544090..131544090hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123623
SamplesHG00731
Known GenesP4HA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5641983
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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