A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139580



Internal ID19265885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132732014..132733714hg38UCSC Ensembl
Outerchr12:133308600..133310300hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv916n106
Supporting Variantsnssv3977166
SamplesKWS2
Known GenesANKLE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139580
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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