A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976327



Internal ID18611533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34734707..34741852hg38UCSC Ensembl
Innerchr14:35203913..35211058hg19UCSC Ensembl
Innerchr14:34273664..34280809hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg387146
hg197146
hg187146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1982205, nssv1982198, nssv1982200, nssv1982199, nssv1982204, nssv1982197, nssv1982202, nssv1982203, nssv1982201, nssv1982196
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976327
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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