A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2320902



Internal ID17837917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:66093805..66095248hg38UCSC Ensembl
Innerchr4:66959523..66960966hg19UCSC Ensembl
Innerchr4:66642118..66643561hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381444
hg191444
hg181444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980209
Supporting Variants
SamplesHGDP00998
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)nssv2320902
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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