A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525428



Internal ID22394806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178526150..178526503hg38UCSC Ensembl
chr1:178495285..178495638hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296909, nssv14296910, nssv14296914, nssv14296912, nssv14296913, nssv14296911
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525428
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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