A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562013



Internal ID22430779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7856597..7856597hg38UCSC Ensembl
chr1:7916657..7916657hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312484, nssv14312486, nssv14312488, nssv14312483, nssv14312485, nssv14312487
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562013
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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