A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139030



Internal ID338214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75377000..75383417hg38UCSC Ensembl
chr1:75842685..75849102hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386418
hg196418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907385
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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