A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2313755



Internal ID17734988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:33009424..33011209hg38UCSC Ensembl
Innerchr4:33011046..33012831hg19UCSC Ensembl
Innerchr4:32687441..32689226hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg381786
hg191786
hg181786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966259
Supporting Variants
SamplesHGDP00456
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)nssv2313755
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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