A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2551945



Internal ID17881409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72652732..72656103hg38UCSC Ensembl
Innerchr9:75267648..75271019hg19UCSC Ensembl
Innerchr9:74457468..74460839hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg383372
hg193372
hg183372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972760
Supporting Variants
SamplesHGDP01307
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)nssv2551945
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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