A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2523065



Internal ID17739930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:14203792..14205782hg38UCSC Ensembl
Innerchr9:14203791..14205781hg19UCSC Ensembl
Innerchr9:14193791..14195781hg18UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg381991
hg191991
hg181991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972651
Supporting Variants
SamplesHGDP00456
Known GenesNFIB
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)nssv2523065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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