A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6088688



Internal ID21997921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50063795..50063795hg38UCSC Ensembl
chr12:50457578..50457578hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17603035
Samples
Known GenesASIC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6088688
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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