A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983324



Internal ID18618518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52094618..52108250hg38UCSC Ensembl
Innerchr12:52488402..52502034hg19UCSC Ensembl
Innerchr12:50774669..50788301hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3813633
hg1913633
hg1813633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1929155, nssv1929161, nssv1929156, nssv1929153, nssv1929157, nssv1929160, nssv1929154, nssv1929152, nssv1929158, nssv1929159
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)nsv983324
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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