A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946289



Internal ID18246453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148207205..148214881hg38UCSC Ensembl
Innerchr1:146137650..146145326hg19UCSC Ensembl
Innerchr1:144849007..144856683hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg387677
hg197677
hg187677
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1792658, nssv1792649, nssv1792653, nssv1792657, nssv1792656, nssv1792654, nssv1792650, nssv1792651, nssv1792655, nssv1792652
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946289
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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