A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946000



Internal ID18592850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75742717..75744416hg38UCSC Ensembl
Innerchr1:76208402..76210101hg19UCSC Ensembl
Innerchr1:75980990..75982689hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381700
hg191700
hg181700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771659, nssv1771661, nssv1771653, nssv1771654, nssv1771658, nssv1771657, nssv1771652, nssv1771656, nssv1771655, nssv1771660
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACADM
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946000
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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