A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859363



Internal ID22043006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53131006..53131006hg38UCSC Ensembl
chr6:52995804..52995804hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245165
Supporting Variants
Samples
Known GenesGCM1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859363
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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