A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2283573



Internal ID17888534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53637924..53639797hg38UCSC Ensembl
Innerchr3:53671951..53673824hg19UCSC Ensembl
Innerchr3:53646991..53648864hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381874
hg191874
hg181874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979835
Supporting Variants
SamplesHGDP01307
Known GenesCACNA1D
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)nssv2283573
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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