A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946584



Internal ID18593434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202495530..202556639hg38UCSC Ensembl
Innerchr1:202464658..202525767hg19UCSC Ensembl
Innerchr1:200731281..200792390hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3861110
hg1961110
hg1861110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813170, nssv1813167, nssv1813162, nssv1813171, nssv1813166, nssv1813165, nssv1813163, nssv1813164, nssv1813168, nssv1813169
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP1R12B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946584
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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