A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1971771



Internal ID17879230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:95803682..95809443hg38UCSC Ensembl
Innerchr13:96455936..96461697hg19UCSC Ensembl
Innerchr13:95253937..95259698hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg385762
hg195762
hg185762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983616
Supporting Variants
SamplesHGDP01307
Known GenesUGGT2
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)nssv1971771
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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