A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439151



Internal ID217693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206049272..206055154hg38UCSC Ensembl
chr1:206286217..206292096hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385883
hg195880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895273
Samples
Known GenesC1orf186
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439151
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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