A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561177



Internal ID334163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51260930..51260981hg38UCSC Ensembl
chr1:51726602..51726653hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902984
Samples
Known GenesRNF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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