A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946134



Internal ID18246298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109668513..109716699hg38UCSC Ensembl
Innerchr1:110211135..110259321hg19UCSC Ensembl
Innerchr1:110012658..110060844hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3848187
hg1948187
hg1848187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782394, nssv1782401, nssv1782398, nssv1782399, nssv1782393, nssv1782397, nssv1782395, nssv1782400, nssv1782392, nssv1782396
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGSTM1, GSTM2, GSTM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946134
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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