A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983853



Internal ID18272359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96221559..96224948hg38UCSC Ensembl
Innerchr14:96687896..96691285hg19UCSC Ensembl
Innerchr14:95757649..95761038hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg383390
hg193390
hg183390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1995614, nssv1995615, nssv1995612, nssv1995613, nssv1995611, nssv1995609, nssv1995607, nssv1995606, nssv1995610, nssv1995608
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBDKRB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983853
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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