A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630516



Internal ID21578821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83622696..83622696hg38UCSC Ensembl
chr6:84332415..84332415hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17142634
SamplesNA19238
Known GenesSNAP91
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630516
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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