A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138434



Internal ID337618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65426143..65426231hg38UCSC Ensembl
chr1:65891826..65891914hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906097
Samples
Known GenesLEPR, LEPROT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138434
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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