A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379921



Internal ID22266558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77168629..77168629hg38UCSC Ensembl
chr1:77634314..77634314hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561989
Supporting Variants
SamplesNA19238
Known GenesPIGK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14379921
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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