A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2552836



Internal ID17808922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72740112..72741635hg38UCSC Ensembl
Innerchr9:75355028..75356551hg19UCSC Ensembl
Innerchr9:74544848..74546371hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381524
hg191524
hg181524
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972400
Supporting Variants
SamplesHGDP00778
Known GenesTMC1
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)nssv2552836
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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