A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2556121



Internal ID17874828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:87524492..87525940hg38UCSC Ensembl
Innerchr9:90139407..90140855hg19UCSC Ensembl
Innerchr9:89329227..89330675hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg381449
hg191449
hg181449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972772
Supporting Variants
SamplesHGDP01284
Known GenesDAPK1
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)nssv2556121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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