A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647684



Internal ID21595989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1152398..1152398hg38UCSC Ensembl
chr12:1261564..1261564hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077832
SamplesHG03371
Known GenesERC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647684
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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