A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964047



Internal ID18599285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56593001..56596224hg38UCSC Ensembl
Innerchr4:57459167..57462390hg19UCSC Ensembl
Innerchr4:57153924..57157147hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383224
hg193224
hg183224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2320086, nssv2320084, nssv2320083, nssv2320088, nssv2320089, nssv2320087, nssv2320081, nssv2320082, nssv2320085, nssv2320090
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTHEGL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964047
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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