A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1941652



Internal ID17533316
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 StatusS
Merged Variantsnsv975525
Supporting Variants
SamplesHGDP01307
Known GenesANKS1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1941652
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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