A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996243



Internal ID64945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39354493..39354554hg38UCSC Ensembl
chr7:39394092..39394153hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489805
Supporting Variants
Samples
Known GenesPOU6F2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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