A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208224



Internal ID22356501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7998601..8062600hg38UCSC Ensembl
chr4:8000328..8064327hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3864000
hg1964000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311323, nssv14311326, nssv14311325, nssv14311330, nssv14311327, nssv14311324, nssv14311322, nssv14311328, nssv14311329
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesABLIM2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208224
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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