A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077067



Internal ID18976835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121640759..121641660hg38UCSC Ensembl
chr8:122652999..122653900hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762182
SamplesKWP1
Known GenesHAS2, HAS2-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077067
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