A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2556643



Internal ID17495953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:87727978..87729326hg38UCSC Ensembl
Innerchr9:90342893..90344241hg19UCSC Ensembl
Innerchr9:89532713..89534061hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg381349
hg191349
hg181349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968717
Supporting Variants
SamplesHGDP00998
Known GenesCTSL
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)nssv2556643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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