A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526791



Internal ID22396174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169866011..169866072hg38UCSC Ensembl
chr5:169293015..169293076hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323792, nssv14323794, nssv14323793
SamplesNA19238, HG00731, NA19240
Known GenesDOCK2, FAM196B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526791
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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