A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652438



Internal ID21600743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100858170..100858170hg38UCSC Ensembl
chr12:101251948..101251948hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077031
SamplesHG02818
Known GenesANO4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652438
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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