A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2332660



Internal ID17441842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112564998..112566718hg38UCSC Ensembl
Innerchr4:113486154..113487874hg19UCSC Ensembl
Innerchr4:113705603..113707323hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381721
hg191721
hg181721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967786
Supporting Variants
SamplesHGDP00665
Known GenesC4orf21
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)nssv2332660
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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