A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946617



Internal ID18593467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206907521..206910168hg38UCSC Ensembl
Innerchr1:207080866..207083513hg19UCSC Ensembl
Innerchr1:205147489..205150136hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382648
hg192648
hg182648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816223, nssv1816225, nssv1816222, nssv1816227, nssv1816228, nssv1816229, nssv1816230, nssv1816226, nssv1816231, nssv1816224
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAIM3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946617
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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