A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2552555



Internal ID17884679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:70217237..70218446hg38UCSC Ensembl
Innerchr9:72832153..72833362hg19UCSC Ensembl
Innerchr9:72021973..72023182hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381210
hg191210
hg181210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972757
Supporting Variants
SamplesHGDP01307
Known GenesMAMDC2, SMC5-AS1
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)nssv2552555
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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