A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1922563



Internal ID17433260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31077366..31107608hg38UCSC Ensembl
Innerchr12:31230300..31260542hg19UCSC Ensembl
Innerchr12:31121567..31151809hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3830243
hg1930243
hg1830243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975470
Supporting Variants
SamplesHGDP00665
Known GenesDDX11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1922563
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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