A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199698



Internal ID22349249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165761972..165762262hg38UCSC Ensembl
chr1:165731209..165731499hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv451n152
Supporting Variantsnssv14294746, nssv14294747, nssv14294749, nssv14294754, nssv14294748, nssv14294750, nssv14294752, nssv14294753, nssv14294751
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTMCO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199698
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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