A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946581



Internal ID18593431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202424909..202427123hg38UCSC Ensembl
Innerchr1:202394037..202396251hg19UCSC Ensembl
Innerchr1:200660660..200662874hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382215
hg192215
hg182215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813048, nssv1813052, nssv1813046, nssv1813047, nssv1813051, nssv1813045, nssv1813053, nssv1813049, nssv1813050, nssv1813054
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)nsv946581
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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