A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2493985



Internal ID17876817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11328051..11332125hg38UCSC Ensembl
Innerchr8:11185560..11189634hg19UCSC Ensembl
Innerchr8:11222970..11227044hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384075
hg194075
hg184075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981910
Supporting Variants
SamplesHGDP01307
Known GenesMTMR9, SLC35G5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2493985
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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