A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962488



Internal ID18597731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11609859..11644047hg38UCSC Ensembl
Innerchr18:11609858..11644046hg19UCSC Ensembl
Innerchr18:11599858..11634046hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3834189
hg1934189
hg1834189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2114444, nssv2114448, nssv2114450, nssv2114447, nssv2114449, nssv2114443, nssv2114451, nssv2114445, nssv2114442, nssv2114446
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC35G4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962488
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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