A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072527



Internal ID19320250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19274091..19274197hg38UCSC Ensembl
chr20:19254735..19254841hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772228
SamplesKWP1
Known GenesLOC100130264, SLC24A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072527
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