A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966248



Internal ID18601478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2088945..2090466hg38UCSC Ensembl
Innerchr4:2090672..2092193hg19UCSC Ensembl
Innerchr4:2060470..2061991hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381522
hg191522
hg181522
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2310109, nssv2310111, nssv2310106, nssv2310107, nssv2310105, nssv2310108, nssv2310104, nssv2310112, nssv2310103, nssv2310110
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOLN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966248
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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