A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945973



Internal ID18592823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:60097456..60097956hg38UCSC Ensembl
Innerchr1:60563128..60563628hg19UCSC Ensembl
Innerchr1:60335716..60336216hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1769278, nssv1769274, nssv1769280, nssv1769283, nssv1769275, nssv1769276, nssv1769282, nssv1769281, nssv1769279, nssv1769277
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)nsv945973
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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