A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2310112



Internal ID17468066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2088945..2090466hg38UCSC Ensembl
Innerchr4:2090672..2092193hg19UCSC Ensembl
Innerchr4:2060470..2061991hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381522
hg191522
hg181522
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966248
Supporting Variants
SamplesHGDP00927
Known GenesPOLN
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)nssv2310112
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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