A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1922452



Internal ID17796291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31280453..31282358hg38UCSC Ensembl
Innerchr12:31433387..31435292hg19UCSC Ensembl
Innerchr12:31324654..31326559hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381906
hg191906
hg181906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973050
Supporting Variants
SamplesHGDP00778
Known GenesFAM60A
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)nssv1922452
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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