A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969422



Internal ID18604649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80425772..80433692hg38UCSC Ensembl
Innerchr6:81135489..81143409hg19UCSC Ensembl
Innerchr6:81192208..81200128hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg387921
hg197921
hg187921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2414920, nssv2414921, nssv2414913, nssv2414919, nssv2414916, nssv2414915, nssv2414914, nssv2414917, nssv2414918, nssv2414912
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969422
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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