A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981185



Internal ID18616384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:131708298..131711185hg38UCSC Ensembl
Innerchr6:132029438..132032325hg19UCSC Ensembl
Innerchr6:132071131..132074018hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382888
hg192888
hg182888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2422978, nssv2422977, nssv2422969, nssv2422972, nssv2422970, nssv2422974, nssv2422971, nssv2422975, nssv2422976, nssv2422973
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTAGE9, ENPP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981185
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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