A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524944



Internal ID22394319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147537804..147537856hg38UCSC Ensembl
chr4:148458956..148459008hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6877n152
Supporting Variantsnssv14318188, nssv14318191, nssv14318192, nssv14318187, nssv14318189, nssv14318190, nssv14318186
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesEDNRA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524944
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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