A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985632



Internal ID57831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77814814..77814865hg38UCSC Ensembl
chr6:78524531..78524582hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394454
Supporting Variants
Samples
Known GenesMEI4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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