A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981571



Internal ID55073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39344433..39344484hg38UCSC Ensembl
chr6:39312209..39312260hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401868
Supporting Variants
Samples
Known GenesKIF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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