A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983351



Internal ID18618545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88233565..88242646hg38UCSC Ensembl
Innerchr12:88627342..88636423hg19UCSC Ensembl
Innerchr12:87151473..87160554hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg389082
hg199082
hg189082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1939566, nssv1939561, nssv1939565, nssv1939560, nssv1939558, nssv1939559, nssv1939564, nssv1939567, nssv1939562, nssv1939563
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)nsv983351
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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