A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204227



Internal ID22353109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8853951..8869150hg38UCSC Ensembl
chr4:8855677..8870876hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3815200
hg1915200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311423, nssv14311424, nssv14311422, nssv14311421, nssv14311420, nssv14311417, nssv14311418, nssv14311425, nssv14311419
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHMX1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204227
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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