A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965771



Internal ID18254315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136275655..136276465hg38UCSC Ensembl
Innerchr6:136596793..136597603hg19UCSC Ensembl
Innerchr6:136638486..136639296hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38811
hg19811
hg18811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2425912, nssv2425914, nssv2425911, nssv2425917, nssv2425915, nssv2425919, nssv2425913, nssv2425916, nssv2425910, nssv2425918
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBCLAF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965771
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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