A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526583



Internal ID22395964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69964323..69964736hg38UCSC Ensembl
chr3:70013474..70013887hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305491, nssv14305490, nssv14307476, nssv14307475
SamplesNA19239, HG00732, NA19240, HG00733
Known GenesMITF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526583
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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