A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945342



Internal ID18592193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227631694..227642206hg38UCSC Ensembl
Innerchr1:227819395..227829907hg19UCSC Ensembl
Innerchr1:225886018..225896530hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3810513
hg1910513
hg1810513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1822008, nssv1822010, nssv1822006, nssv1822009, nssv1822012, nssv1822011, nssv1822007, nssv1822004, nssv1822005, nssv1822003
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF678
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945342
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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