A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1917558



Internal ID17846512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12248935..12249595hg38UCSC Ensembl
Innerchr12:12401869..12402529hg19UCSC Ensembl
Innerchr12:12293136..12293796hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38661
hg19661
hg18661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976580
Supporting Variants
SamplesHGDP01029
Known GenesLRP6
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)nssv1917558
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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