A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966860



Internal ID18602089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:92560653..92563262hg38UCSC Ensembl
Innerchr7:92189967..92192576hg19UCSC Ensembl
Innerchr7:92027903..92030512hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg382610
hg192610
hg182610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2468922, nssv2468925, nssv2468920, nssv2468929, nssv2468921, nssv2468928, nssv2468927, nssv2468923, nssv2468924, nssv2468926
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM133B, FAM133DP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966860
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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