A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369012



Internal ID22205582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60065002..60065002hg38UCSC Ensembl
chr1:60530674..60530674hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561707
Supporting Variants
SamplesHG00732
Known GenesC1orf87
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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