A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945422



Internal ID18592273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243045737..243102761hg38UCSC Ensembl
Innerchr1:243209039..243266063hg19UCSC Ensembl
Innerchr1:241275662..241332686hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3857025
hg1957025
hg1857025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1827031, nssv1827028, nssv1827029, nssv1827030, nssv1827035, nssv1827027, nssv1827032, nssv1827036, nssv1827034, nssv1827033
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC731275
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945422
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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