A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138649



Internal ID337833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41526359..41527344hg38UCSC Ensembl
chr1:41992030..41993015hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902112
Samples
Known GenesHIVEP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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