A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962882



Internal ID18598124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54744484..54746218hg38UCSC Ensembl
Innerchr18:52411715..52413449hg19UCSC Ensembl
Innerchr18:50562713..50564447hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381735
hg191735
hg181735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2123633, nssv2123636, nssv2123629, nssv2123637, nssv2123632, nssv2123630, nssv2123634, nssv2123638, nssv2123635, nssv2123631
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962882
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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