A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140102



Internal ID339294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188797276..189223591hg38UCSC Ensembl
chr1:188766407..189192722hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38426316
hg19426316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893734
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140102
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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