A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965212



Internal ID18600446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133784891..133787472hg38UCSC Ensembl
Innerchr3:133503735..133506316hg19UCSC Ensembl
Innerchr3:134986425..134989006hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382582
hg192582
hg182582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2293970, nssv2293965, nssv2293966, nssv2293967, nssv2293968, nssv2293961, nssv2293963, nssv2293964, nssv2293962, nssv2293969
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSRPRB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965212
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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