A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1954367



Internal ID17761609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23879982..23895571hg38UCSC Ensembl
Innerchr13:24454121..24469710hg19UCSC Ensembl
Innerchr13:23352121..23367710hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3815590
hg1915590
hg1815590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983560
Supporting Variants
SamplesHGDP00542
Known GenesC1QTNF9B, C1QTNF9B-AS1, MIPEP
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)nssv1954367
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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