A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997622



Internal ID19188854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55080115..55087616hg38UCSC Ensembl
Outerchr12:55473899..55481400hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387502
hg197502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148834
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997622
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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