A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2557280



Internal ID17771478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:92102966..92108491hg38UCSC Ensembl
Innerchr9:94865248..94870773hg19UCSC Ensembl
Innerchr9:93905069..93910594hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg385526
hg195526
hg185526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972418
Supporting Variants
SamplesHGDP00542
Known GenesSPTLC1
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)nssv2557280
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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