A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133557



Internal ID18920245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52409984..52410684hg38UCSC Ensembl
Outerchr3:52444000..52444700hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2525n106
Supporting Variantsnssv3969119
SamplesKWS2
Known GenesBAP1, PHF7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133557
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