A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966868



Internal ID18255411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102668218..102673825hg38UCSC Ensembl
Innerchr7:102308665..102314272hg19UCSC Ensembl
Innerchr7:102095901..102101508hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385608
hg195608
hg185608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2472908, nssv2472912, nssv2472914, nssv2472907, nssv2472906, nssv2472910, nssv2472909, nssv2472911, nssv2472913, nssv2472915
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOLR2J2, POLR2J3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966868
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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