A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120933



Internal ID18918604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:51454947..51455131hg38UCSC Ensembl
Outerchr8:52367507..52367691hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3824n106
Supporting Variantsnssv3964143
SamplesKWS2
Known GenesPXDNL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120933
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