A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975525



Internal ID18264047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98792187..98796278hg38UCSC Ensembl
Innerchr12:99185965..99190056hg19UCSC Ensembl
Innerchr12:97710096..97714187hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384092
hg194092
hg184092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941653, nssv1941654, nssv1941660, nssv1941652, nssv1941658, nssv1941659, nssv1941655, nssv1941657, nssv1941661, nssv1941656
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesANKS1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975525
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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