A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646852



Internal ID21595157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52918174..52918174hg38UCSC Ensembl
chr12:53311958..53311958hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17098372
SamplesHG00732
Known GenesKRT8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646852
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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