A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196271



Internal ID22346311
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388089
SamplesHG00733
Known GenesGIPC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196271
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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