A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612391



Internal ID21560696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8331445..8331445hg38UCSC Ensembl
chr1:8391505..8391505hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067006, nssv17067005, nssv17067004
SamplesHG00731, HG00732, HG03371
Known GenesSLC45A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612391
Frequency
Sample Size35
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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