A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388089



Internal ID22242738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78077901..78136629hg38UCSC Ensembl
chr1:78543585..78602313hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858729
hg1958729
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196271
Supporting Variants
SamplesHG00733
Known GenesGIPC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388089
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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