A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965770



Internal ID18254314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136260313..136261054hg38UCSC Ensembl
Innerchr6:136581451..136582192hg19UCSC Ensembl
Innerchr6:136623144..136623885hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38742
hg19742
hg18742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2424555, nssv2424551, nssv2424553, nssv2424556, nssv2424550, nssv2424548, nssv2424552, nssv2424554, nssv2424557, nssv2424549
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)nsv965770
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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