A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967014



Internal ID18602243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48119161..48122794hg38UCSC Ensembl
Innerchr3:48160651..48164284hg19UCSC Ensembl
Innerchr3:48135655..48139288hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383634
hg193634
hg183634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2280562, nssv2280559, nssv2280558, nssv2280565, nssv2280563, nssv2280556, nssv2280557, nssv2280561, nssv2280560, nssv2280564
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967014
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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