A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529493



Internal ID22398885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53173080..53173151hg38UCSC Ensembl
chr6:53037878..53037949hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7902n152
Supporting Variantsnssv14329103, nssv14329102, nssv14329107, nssv14329101, nssv14329100, nssv14329106, nssv14329104, nssv14329105, nssv14329099
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)nsv3529493
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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