A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974322



Internal ID18609533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:32090969..32094081hg38UCSC Ensembl
Innerchr14:32560175..32563287hg19UCSC Ensembl
Innerchr14:31629926..31633038hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383113
hg193113
hg183113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1981888, nssv1981887, nssv1981886, nssv1981885, nssv1981890, nssv1981882, nssv1981891, nssv1981889, nssv1981883, nssv1981884
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARHGAP5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974322
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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