A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975192



Internal ID18610400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61196186..61254450hg38UCSC Ensembl
Innerchr11:60963658..61021922hg19UCSC Ensembl
Innerchr11:60720234..60778498hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3858265
hg1958265
hg1858265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1891533, nssv1891532, nssv1891525, nssv1891530, nssv1891528, nssv1891534, nssv1891527, nssv1891529, nssv1891531, nssv1891526
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPGA3, PGA4, PGA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975192
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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