A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1955250



Internal ID17878816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23936430..23945251hg38UCSC Ensembl
Innerchr13:24510569..24519390hg19UCSC Ensembl
Innerchr13:23408569..23417390hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg388822
hg198822
hg188822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977211
Supporting Variants
SamplesHGDP01307
Known GenesANKRD20A19P
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)nssv1955250
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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