A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000988



Internal ID19194223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132732013..132733714hg38UCSC Ensembl
Outerchr12:133308599..133310300hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149687
Supporting Variants
SamplesKWB1
Known GenesANKLE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000988
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