A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449169



Internal ID227414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212886333..212887720hg38UCSC Ensembl
chr1:213059675..213061062hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381388
hg191388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895761
Samples
Known GenesFLVCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449169
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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