A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450499



Internal ID22508369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47247971..47264216hg38UCSC Ensembl
chr1:47713643..47729888hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3816246
hg1916246
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830067
Supporting Variants
Samples
Known GenesSTIL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450499
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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