A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630382



Internal ID21578687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5304997..5304997hg38UCSC Ensembl
chr5:5305110..5305110hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130195
SamplesHG03371
Known GenesADAMTS16
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630382
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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