A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976619



Internal ID18611825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52413560..52414168hg38UCSC Ensembl
Innerchr12:52807344..52807952hg19UCSC Ensembl
Innerchr12:51093611..51094219hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1929585, nssv1929582, nssv1929581, nssv1929578, nssv1929583, nssv1929584, nssv1929579, nssv1929577, nssv1929576, nssv1929580
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)nsv976619
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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