A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2315384



Internal ID17850928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:27729328..27730788hg38UCSC Ensembl
Innerchr4:27730950..27732410hg19UCSC Ensembl
Innerchr4:27340048..27341508hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg381461
hg191461
hg181461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964034
Supporting Variants
SamplesHGDP01029
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)nssv2315384
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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