A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859489



Internal ID22043132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99959623..99959623hg38UCSC Ensembl
chr6:100407499..100407499hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256930
Supporting Variants
Samples
Known GenesMCHR2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859489
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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