A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973897



Internal ID19228026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52590299..52590370hg38UCSC Ensembl
Outerchr3:52624315..52624386hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114379
Supporting Variants
SamplesKWS2
Known GenesPBRM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973897
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