A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976607



Internal ID18611813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43606720..43630935hg38UCSC Ensembl
Innerchr12:44000523..44024738hg19UCSC Ensembl
Innerchr12:42286790..42311005hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3824216
hg1924216
hg1824216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1927192, nssv1927184, nssv1927191, nssv1927189, nssv1927186, nssv1927187, nssv1927188, nssv1927183, nssv1927185, nssv1927190
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)nsv976607
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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