A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902984



Internal ID2807
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 StatusS
Merged Variantsnsv5561177
Supporting Variants
Samples
Known GenesRNF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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