A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1822969



Internal ID17430636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229431230..229435274hg38UCSC Ensembl
Innerchr1:229566977..229571021hg19UCSC Ensembl
Innerchr1:227633600..227637644hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384045
hg194045
hg184045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945360
Supporting Variants
SamplesHGDP00665
Known GenesACTA1
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)nssv1822969
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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