A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077019



Internal ID19325239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12754190..12755491hg38UCSC Ensembl
chr8:12611699..12613000hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764518
SamplesKWP1
Known GenesLONRF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077019
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