A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1825005



Internal ID17793917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240170499..240171499hg38UCSC Ensembl
Innerchr1:240333799..240334799hg19UCSC Ensembl
Innerchr1:238400422..238401422hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945395
Supporting Variants
SamplesHGDP00778
Known GenesFMN2
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)nssv1825005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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