A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196114



Internal ID22346182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136971587..136971992hg38UCSC Ensembl
chr5:136307276..136307681hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325078, nssv14325079, nssv14325077
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196114
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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