A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979835



Internal ID18615036
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2284460, nssv2283577, nssv2283574, nssv2283576, nssv2283575, nssv2283578, nssv2284461, nssv2283573, nssv2283579, nssv2284459
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCACNA1D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979835
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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