A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387866



Internal ID22445736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51248373..51254629hg38UCSC Ensembl
chr1:51714045..51720301hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386257
hg196257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883264
Supporting Variants
Samples
Known GenesRNF11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387866
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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