A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248701



Internal ID22053311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127885170..127885170hg38UCSC Ensembl
chr12:128369715..128369715hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846216
Samples
Known GenesFLJ37505
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248701
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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