A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960650



Internal ID18249211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10911309..10917040hg38UCSC Ensembl
Innerchr18:10911307..10917038hg19UCSC Ensembl
Innerchr18:10901307..10907038hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg385732
hg195732
hg185732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2115021, nssv2115018, nssv2115019, nssv2115020, nssv2115025, nssv2115017, nssv2115024, nssv2115023, nssv2115026, nssv2115022
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPIEZO2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960650
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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