A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302059



Internal ID22186908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:11916946..11918629hg38UCSC Ensembl
chr1:143181042..143182726hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381684
hg191685
Variant TypeOTHER copy number variation
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191070
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302059
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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