A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1988216



Internal ID17803863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55062618..55065059hg38UCSC Ensembl
Innerchr14:55529336..55531777hg19UCSC Ensembl
Innerchr14:54599089..54601530hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382442
hg192442
hg182442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977468
Supporting Variants
SamplesHGDP00778
Known GenesMAPK1IP1L
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)nssv1988216
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