A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946097



Internal ID18592947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100646446..100656272hg38UCSC Ensembl
Innerchr1:101112002..101121828hg19UCSC Ensembl
Innerchr1:100884590..100894416hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg389827
hg199827
hg189827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1778135, nssv1778142, nssv1778140, nssv1778134, nssv1778141, nssv1778136, nssv1778133, nssv1778137, nssv1778139, nssv1778138
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100128787
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946097
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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