A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946445



Internal ID18246609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159065253..159066111hg38UCSC Ensembl
Innerchr1:159035043..159035901hg19UCSC Ensembl
Innerchr1:157301667..157302525hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38859
hg19859
hg18859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802274, nssv1802270, nssv1802269, nssv1802272, nssv1802271, nssv1801755, nssv1802276, nssv1801756, nssv1802273, nssv1802275
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAIM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946445
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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