A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932257



Internal ID17777016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55409967..55414561hg38UCSC Ensembl
Innerchr12:55803751..55808345hg19UCSC Ensembl
Innerchr12:54090018..54094612hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384595
hg194595
hg184595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975498
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1932257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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