A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564642



Internal ID22433372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2893191..2893191hg38UCSC Ensembl
chr6:2893425..2893425hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14324832, nssv14324829, nssv14324833, nssv14324830, nssv14324831
SamplesHG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSERPINB9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564642
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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