A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1820411



Internal ID17760761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226186677..226189813hg38UCSC Ensembl
Innerchr1:226374378..226377514hg19UCSC Ensembl
Innerchr1:224441001..224444137hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg383137
hg193137
hg183137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945331
Supporting Variants
SamplesHGDP00542
Known GenesACBD3
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)nssv1820411
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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