A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449917



Internal ID228139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216989128..216989234hg38UCSC Ensembl
chr1:217162470..217162576hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896704
Samples
Known GenesESRRG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449917
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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