A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1813169



Internal ID17843044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202495530..202556639hg38UCSC Ensembl
Innerchr1:202464658..202525767hg19UCSC Ensembl
Innerchr1:200731281..200792390hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3861110
hg1961110
hg1861110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946584
Supporting Variants
SamplesHGDP01029
Known GenesPPP1R12B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1813169
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