A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967800



Internal ID18256342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144116796..144144804hg38UCSC Ensembl
Innerchr4:145037949..145065957hg19UCSC Ensembl
Innerchr4:145257399..145285407hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3828009
hg1928009
hg1828009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337702, nssv2337703, nssv2337708, nssv2337709, nssv2337701, nssv2337700, nssv2337706, nssv2337704, nssv2337705, nssv2337707
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGYPA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967800
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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