A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210207



Internal ID22358162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686880..137688197hg38UCSC Ensembl
chr5:137022569..137023886hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7535n152
Supporting Variantsnssv14325104, nssv14325103, nssv14325102, nssv14325099, nssv14325106, nssv14325101, nssv14325722, nssv14325100, nssv14325105
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLHL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210207
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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