A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965164



Internal ID18253712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48443671..48444171hg38UCSC Ensembl
Innerchr3:48485079..48485579hg19UCSC Ensembl
Innerchr3:48460083..48460583hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2281837, nssv2281833, nssv2281828, nssv2281835, nssv2281836, nssv2281831, nssv2281830, nssv2281832, nssv2281829, nssv2281834
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMA7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965164
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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