A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979857



Internal ID18268372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:93988017..93988697hg38UCSC Ensembl
Innerchr3:93706861..93707541hg19UCSC Ensembl
Innerchr3:95189551..95190231hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38681
hg19681
hg18681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2287969, nssv2287974, nssv2287973, nssv2287975, nssv2287978, nssv2287970, nssv2287976, nssv2287971, nssv2287972, nssv2287977
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARL13B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979857
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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