A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295535



Internal ID22184963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170781736..170781736hg38UCSC Ensembl
chr2:171638246..171638246hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562781
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295535
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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