A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969464



Internal ID46960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131241608..131241627hg38UCSC Ensembl
chr6:131562748..131562767hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544501
Supporting Variants
Samples
Known GenesAKAP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.080834


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