A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973037



Internal ID18608252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17383114..17384600hg38UCSC Ensembl
Innerchr12:17536048..17537534hg19UCSC Ensembl
Innerchr12:17427315..17428801hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381487
hg191487
hg181487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919146, nssv1919140, nssv1919145, nssv1919149, nssv1919144, nssv1919148, nssv1919143, nssv1919147, nssv1919141, nssv1919142
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)nsv973037
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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