A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563791



Internal ID22432527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:64989893..64989893hg38UCSC Ensembl
chr4:65855611..65855611hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312660, nssv14312655, nssv14312654, nssv14312659, nssv14312657, nssv14312656, nssv14312658, nssv14312653
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesLOC401134
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563791
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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