A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960243



Internal ID18595496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3377350..3379689hg38UCSC Ensembl
Innerchr18:3377348..3379687hg19UCSC Ensembl
Innerchr18:3367348..3369687hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382340
hg192340
hg182340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2113304, nssv2113306, nssv2113305, nssv2113313, nssv2113311, nssv2113307, nssv2113310, nssv2113308, nssv2113309, nssv2113312
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)nsv960243
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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