A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147445



Internal ID346626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54911607..54919415hg38UCSC Ensembl
chr1:55377280..55385088hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg387809
hg197809
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902811
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147445
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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