A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946559



Internal ID18593409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196820495..196855363hg38UCSC Ensembl
Innerchr1:196789625..196824493hg19UCSC Ensembl
Innerchr1:195056248..195091116hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3834869
hg1934869
hg1834869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1812373, nssv1812374, nssv1812380, nssv1812379, nssv1812378, nssv1812377, nssv1812382, nssv1812375, nssv1812381, nssv1812376
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCFHR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946559
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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