A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966754



Internal ID18255298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6710658..6798635hg38UCSC Ensembl
Innerchr7:6750289..6838266hg19UCSC Ensembl
Innerchr7:6716814..6804791hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3887978
hg1987978
hg1887978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2434336, nssv2434340, nssv2434337, nssv2434338, nssv2434342, nssv2434341, nssv2434339, nssv2434334, nssv2434343, nssv2434335
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPMS2CL, RSPH10B, RSPH10B2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966754
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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