A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245187



Internal ID22049797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55187682..55187682hg38UCSC Ensembl
chr6:55052480..55052480hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17859385
Samples
Known GenesHCRTR2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245187
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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