A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974319



Internal ID18609530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25358213..25358830hg38UCSC Ensembl
Innerchr14:25827419..25828036hg19UCSC Ensembl
Innerchr14:24897259..24897876hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1981057, nssv1981056, nssv1981058, nssv1981060, nssv1981062, nssv1981063, nssv1981061, nssv1981064, nssv1981059, nssv1981055
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)nsv974319
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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