A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961040



Internal ID18596287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26890728..26894044hg38UCSC Ensembl
Innerchr18:24470692..24474008hg19UCSC Ensembl
Innerchr18:22724690..22728006hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383317
hg193317
hg183317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2121499, nssv2121504, nssv2121502, nssv2121500, nssv2121501, nssv2121503, nssv2121507, nssv2121506, nssv2121498, nssv2121505
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAQP4-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961040
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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