A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1916093



Internal ID17388936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10430986..10434172hg38UCSC Ensembl
Innerchr12:10583585..10586771hg19UCSC Ensembl
Innerchr12:10474852..10478038hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383187
hg193187
hg183187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975447
Supporting Variants
SamplesHGDP00456
Known GenesKLRC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1916093
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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