A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6137876



Internal ID337057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145085587..145093087hg38UCSC Ensembl
chr1:143916056..143923556hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890006
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6137876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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