A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945284



Internal ID18245472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214482250..214483461hg38UCSC Ensembl
Innerchr1:214655593..214656804hg19UCSC Ensembl
Innerchr1:212722216..212723427hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381212
hg191212
hg181212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1818594, nssv1818591, nssv1818592, nssv1818593, nssv1818587, nssv1818585, nssv1818590, nssv1818586, nssv1818589, nssv1818588
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPTPN14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945284
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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