A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139293



Internal ID19276138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130838503..130840492hg38UCSC Ensembl
Outerchr8:131850749..131852738hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381990
hg191990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3904n106
Supporting Variantsnssv3991915
SamplesKWS1
Known GenesADCY8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139293
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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