A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2333785



Internal ID17800049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119395437..119402291hg38UCSC Ensembl
Innerchr4:120316592..120323446hg19UCSC Ensembl
Innerchr4:120536040..120542894hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg386855
hg196855
hg186855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967791
Supporting Variants
SamplesHGDP00778
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2333785
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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