A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1079021



Internal ID18971424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164558862..164559963hg38UCSC Ensembl
chr1:164528099..164529200hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764415
SamplesKWP1
Known GenesPBX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1079021
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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