A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2314318



Internal ID17513776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39453957..39456830hg38UCSC Ensembl
Innerchr4:39455577..39458450hg19UCSC Ensembl
Innerchr4:39131972..39134845hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382874
hg192874
hg182874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966263
Supporting Variants
SamplesHGDP01284
Known GenesMIR1273H, RPL9
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)nssv2314318
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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