A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2555908



Internal ID17396085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83968353..83969898hg38UCSC Ensembl
Innerchr9:86583268..86584813hg19UCSC Ensembl
Innerchr9:85773088..85774633hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg381546
hg191546
hg181546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972408
Supporting Variants
SamplesHGDP00456
Known GenesHNRNPK, MIR7-1
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)nssv2555908
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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