A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980627



Internal ID18615827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31053527..31054235hg38UCSC Ensembl
Innerchr5:31053634..31054342hg19UCSC Ensembl
Innerchr5:31089391..31090099hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38709
hg19709
hg18709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2351117, nssv2351116, nssv2351112, nssv2351114, nssv2351121, nssv2351119, nssv2351113, nssv2351120, nssv2351118, nssv2351115
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)nsv980627
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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