A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969449



Internal ID18604676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:133149946..133157037hg38UCSC Ensembl
Innerchr6:133471085..133478176hg19UCSC Ensembl
Innerchr6:133512778..133519869hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387092
hg197092
hg187092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2423599, nssv2423603, nssv2423602, nssv2423601, nssv2423600, nssv2423604, nssv2423606, nssv2423597, nssv2423605, nssv2423598
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)nsv969449
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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