A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2340080



Internal ID17887172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:159006917..159008826hg38UCSC Ensembl
Innerchr4:159928069..159929978hg19UCSC Ensembl
Innerchr4:160147519..160149428hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381910
hg191910
hg181910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967806
Supporting Variants
SamplesHGDP01307
Known GenesC4orf45
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)nssv2340080
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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