A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562858



Internal ID22431600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76556976..76556976hg38UCSC Ensembl
chr2:76784102..76784102hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290815, nssv14290820, nssv14290817, nssv14290818, nssv14290819, nssv14290816, nssv14290814, nssv14290821, nssv14290822
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562858
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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