A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647041



Internal ID21595346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124840024..124840024hg38UCSC Ensembl
chr12:125324570..125324570hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077717, nssv17077718, nssv17077719
SamplesHG00731, HG00864
Known GenesSCARB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647041
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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