A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946127



Internal ID18592977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108989617..108994999hg38UCSC Ensembl
Innerchr1:109532239..109537621hg19UCSC Ensembl
Innerchr1:109333762..109339144hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385383
hg195383
hg185383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1781684, nssv1781685, nssv1781683, nssv1781690, nssv1781682, nssv1781687, nssv1781688, nssv1781689, nssv1781691, nssv1781686
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWDR47
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946127
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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