A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2552497



Internal ID17751745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:74803817..74805509hg38UCSC Ensembl
Innerchr9:77418733..77420425hg19UCSC Ensembl
Innerchr9:76608553..76610245hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381693
hg191693
hg181693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982306
Supporting Variants
SamplesHGDP00521
Known GenesTRPM6
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)nssv2552497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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