A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973074



Internal ID18261603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56042069..56044209hg38UCSC Ensembl
Innerchr12:56435853..56437993hg19UCSC Ensembl
Innerchr12:54722120..54724260hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382141
hg192141
hg182141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1933255, nssv1933260, nssv1933254, nssv1933256, nssv1933252, nssv1933257, nssv1933259, nssv1933251, nssv1933253, nssv1933258
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS26
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973074
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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