A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966319



Internal ID18601549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:129159615..129163847hg38UCSC Ensembl
Innerchr4:130080770..130085002hg19UCSC Ensembl
Innerchr4:130300220..130304452hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg384233
hg194233
hg184233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2335475, nssv2335467, nssv2335472, nssv2335476, nssv2335474, nssv2335473, nssv2335470, nssv2335471, nssv2335469, nssv2335468
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)nsv966319
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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