A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2562772



Internal ID17751929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:100731138..100733687hg38UCSC Ensembl
Innerchr9:103493420..103495969hg19UCSC Ensembl
Innerchr9:102533241..102535790hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg382550
hg192550
hg182550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982330
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2562772
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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