A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5658997



Internal ID21607302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124839644..124839644hg38UCSC Ensembl
chr12:125324190..125324190hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38738
hg19738
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077715, nssv17077716, nssv17077714
SamplesHG00512, HG00731, HG03371
Known GenesSCARB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5658997
Frequency
Sample Size35
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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