A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980229



Internal ID18268743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88521147..88521989hg38UCSC Ensembl
Innerchr4:89442298..89443140hg19UCSC Ensembl
Innerchr4:89661321..89662163hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38843
hg19843
hg18843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2327547, nssv2327545, nssv2327544, nssv2327549, nssv2327541, nssv2327550, nssv2327546, nssv2327542, nssv2327543, nssv2327548
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPIGY, PYURF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980229
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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