A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945273



Internal ID18245461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209784907..209786691hg38UCSC Ensembl
Innerchr1:209958252..209960036hg19UCSC Ensembl
Innerchr1:208024875..208026659hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381785
hg191785
hg181785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814075, nssv1814073, nssv1814070, nssv1814068, nssv1814072, nssv1814066, nssv1814067, nssv1814069, nssv1814074, nssv1814071
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesIRF6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945273
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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