A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449971



Internal ID228191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207809859..207810072hg38UCSC Ensembl
chr1:207983204..207983417hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895620
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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