A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946373



Internal ID18593223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149698254..149710021hg38UCSC Ensembl
Innerchr1:149669841..149681569hg19UCSC Ensembl
Innerchr1:147936465..147948193hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3811768
hg1911729
hg1811729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797189, nssv1797188, nssv1797191, nssv1797193, nssv1797185, nssv1797192, nssv1797190, nssv1797186, nssv1797187, nssv1797194
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC00869
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946373
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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