A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192599



Internal ID22343157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15581783..15582174hg38UCSC Ensembl
chr1:15908278..15908669hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv116n152
Supporting Variantsnssv14341653, nssv14341654, nssv14341652, nssv14341650, nssv14341651
SamplesHG00512, NA19238, NA19239, NA19240, HG00513
Known GenesAGMAT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192599
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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