A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946171



Internal ID18593021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117138339..117139341hg38UCSC Ensembl
Innerchr1:117680961..117681963hg19UCSC Ensembl
Innerchr1:117482484..117483486hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381003
hg191003
hg181003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1784537, nssv1784536, nssv1784540, nssv1784542, nssv1784541, nssv1784533, nssv1784539, nssv1784534, nssv1784538, nssv1784535
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946171
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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