A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978165



Internal ID52845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12099768..12099818hg38UCSC Ensembl
chr6:12100001..12100051hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540563
Supporting Variants
Samples
Known GenesHIVEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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