A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2328912



Internal ID17408998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102898239..102961323hg38UCSC Ensembl
Innerchr4:103819396..103882480hg19UCSC Ensembl
Innerchr4:104038845..104101929hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3863085
hg1963085
hg1863085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967781
Supporting Variants
SamplesHGDP00521
Known GenesSLC9B1
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)nssv2328912
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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