A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2312224



Internal ID17731726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:13336342..13338407hg38UCSC Ensembl
Innerchr4:13337966..13340031hg19UCSC Ensembl
Innerchr4:12947064..12949129hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg382066
hg192066
hg182066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967725
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2312224
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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