A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973121



Internal ID18608336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112453001..112456155hg38UCSC Ensembl
Innerchr12:112890805..112893959hg19UCSC Ensembl
Innerchr12:111375188..111378342hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383155
hg193155
hg183155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945305, nssv1945306, nssv1945304, nssv1945301, nssv1945300, nssv1945298, nssv1945297, nssv1945302, nssv1945303, nssv1945299
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTPN11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973121
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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