A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318183



Internal ID17728468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45005635..45032450hg38UCSC Ensembl
Innerchr4:45007652..45034467hg19UCSC Ensembl
Innerchr4:44702409..44729224hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3826816
hg1926816
hg1826816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv964044
Supporting Variants
SamplesHGDP00456
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)nssv2318183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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