A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2314417



Internal ID17419501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39457544..39458044hg38UCSC Ensembl
Innerchr4:39459164..39459664hg19UCSC Ensembl
Innerchr4:39135559..39136059hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980196
Supporting Variants
SamplesHGDP00542
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)nssv2314417
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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