A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561989



Internal ID22430755
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380496, nssv14379921
SamplesNA19238, NA19239
Known GenesPIGK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561989
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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