A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945994



Internal ID18592844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70530554..70536779hg38UCSC Ensembl
Innerchr1:70996237..71002462hg19UCSC Ensembl
Innerchr1:70768825..70775050hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386226
hg196226
hg186226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770972, nssv1770978, nssv1770973, nssv1770974, nssv1770979, nssv1770970, nssv1770977, nssv1770971, nssv1770976, nssv1770975
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)nsv945994
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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