A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975487



Internal ID18610695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50217134..50218434hg38UCSC Ensembl
Innerchr12:50610917..50612217hg19UCSC Ensembl
Innerchr12:48897184..48898484hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381301
hg191301
hg181301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1927943, nssv1927939, nssv1927934, nssv1927942, nssv1927936, nssv1927937, nssv1927940, nssv1927935, nssv1927941, nssv1927938
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLIMA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975487
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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