A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981146



Internal ID18616345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54622259..54631878hg38UCSC Ensembl
Innerchr6:54487057..54496676hg19UCSC Ensembl
Innerchr6:54595016..54604635hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg389620
hg199620
hg189620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2409572, nssv2409574, nssv2409570, nssv2409575, nssv2409577, nssv2409576, nssv2409573, nssv2409579, nssv2409578, nssv2409571
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)nsv981146
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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