A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967799



Internal ID18603027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143913118..144101156hg38UCSC Ensembl
Innerchr4:144834271..145022309hg19UCSC Ensembl
Innerchr4:145053721..145241759hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38188039
hg19188039
hg18188039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337621, nssv2337624, nssv2337629, nssv2337620, nssv2337626, nssv2337622, nssv2337628, nssv2337625, nssv2337623, nssv2337627
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGYPB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967799
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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