A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524831



Internal ID22394267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209671501..209671565hg38UCSC Ensembl
chr1:209844846..209844910hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305444, nssv14305445, nssv14305447, nssv14305443, nssv14305446, nssv14305442
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524831
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer