A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1957225



Internal ID17761755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:27066040..27071138hg38UCSC Ensembl
Innerchr13:27640177..27645275hg19UCSC Ensembl
Innerchr13:26538177..26543275hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg385099
hg195099
hg185099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983568
Supporting Variants
SamplesHGDP00542
Known GenesUSP12
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)nssv1957225
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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