A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1946277



Internal ID17389770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120197656..120199442hg38UCSC Ensembl
Innerchr12:120635459..120637245hg19UCSC Ensembl
Innerchr12:119119842..119121628hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381787
hg191787
hg181787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973128
Supporting Variants
SamplesHGDP00456
Known GenesRPLP0
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1946277
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