A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961039



Internal ID18596286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26599617..26602611hg38UCSC Ensembl
Innerchr18:24179581..24182575hg19UCSC Ensembl
Innerchr18:22433579..22436573hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382995
hg192995
hg182995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2120351, nssv2120354, nssv2120346, nssv2120348, nssv2120352, nssv2120345, nssv2120347, nssv2120350, nssv2120349, nssv2120353
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKCTD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961039
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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