A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2316420



Internal ID17770297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:36433868..36444649hg38UCSC Ensembl
Innerchr4:36435490..36446271hg19UCSC Ensembl
Innerchr4:36111885..36122666hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3810782
hg1910782
hg1810782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980194
Supporting Variants
SamplesHGDP00542
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)nssv2316420
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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