A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976577



Internal ID18611783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11498214..11500827hg38UCSC Ensembl
Innerchr12:11651148..11653761hg19UCSC Ensembl
Innerchr12:11542415..11545028hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382614
hg192614
hg182614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1918047, nssv1918044, nssv1918049, nssv1918046, nssv1918041, nssv1918040, nssv1918042, nssv1918045, nssv1918043, nssv1918048
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)nsv976577
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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