A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196514



Internal ID22346511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8869201..8914200hg38UCSC Ensembl
chr4:8870927..8915926hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3845000
hg1945000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311431, nssv14311432, nssv14311428, nssv14311426, nssv14311427, nssv14311430, nssv14311434, nssv14311433, nssv14311429
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)nsv3196514
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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