A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974372



Internal ID18609583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101842223..101844271hg38UCSC Ensembl
Innerchr14:102308560..102310608hg19UCSC Ensembl
Innerchr14:101378313..101380361hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg382049
hg192049
hg182049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1998263, nssv1998267, nssv1998265, nssv1998266, nssv1998264, nssv1998269, nssv1998268, nssv1998270, nssv1998261, nssv1998262
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP2R5C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974372
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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