A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975480



Internal ID18610688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41699146..41699790hg38UCSC Ensembl
Innerchr12:42092948..42093592hg19UCSC Ensembl
Innerchr12:40379215..40379859hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38645
hg19645
hg18645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1924344, nssv1924349, nssv1924351, nssv1924345, nssv1924347, nssv1924350, nssv1924343, nssv1924346, nssv1924348, nssv1924352
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)nsv975480
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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