A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970927



Internal ID18606149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:104667456..104671965hg38UCSC Ensembl
Innerchr7:104307903..104312412hg19UCSC Ensembl
Innerchr7:104095139..104099648hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384510
hg194510
hg184510
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2474029, nssv2474035, nssv2474028, nssv2474036, nssv2474037, nssv2474033, nssv2474032, nssv2474034, nssv2474030, nssv2474031
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLHFPL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970927
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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