A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2550470



Internal ID17869133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:41093092..41132490hg38UCSC Ensembl
Innerchr9:69166321..69205719hg19UCSC Ensembl
Innerchr9:68456141..68495539hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3839399
hg1939399
hg1839399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv972389
Supporting Variants
SamplesHGDP01284
Known GenesCBWD6, FOXD4L6, LOC440896
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)nssv2550470
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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