A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072183



Internal ID18976001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42258002..42258152hg38UCSC Ensembl
chr21:43678112..43678262hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768768
SamplesKWP1
Known GenesABCG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072183
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