A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967813



Internal ID18256355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:172379785..172380285hg38UCSC Ensembl
Innerchr4:173300936..173301436hg19UCSC Ensembl
Innerchr4:173537511..173538011hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2342731, nssv2342735, nssv2342726, nssv2342734, nssv2342728, nssv2342727, nssv2342729, nssv2342732, nssv2342733, nssv2342730
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGALNTL6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967813
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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