A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946290



Internal ID18246454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148214881..148216307hg38UCSC Ensembl
Innerchr1:146145326..146146753hg19UCSC Ensembl
Innerchr1:144856683..144858110hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381427
hg191428
hg181428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1792732, nssv1792725, nssv1792731, nssv1792733, nssv1792728, nssv1792727, nssv1792730, nssv1792729, nssv1792726, nssv1792724
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946290
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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