A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946007



Internal ID18592857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77847833..77848796hg38UCSC Ensembl
Innerchr1:78313518..78314481hg19UCSC Ensembl
Innerchr1:78086106..78087069hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38964
hg19964
hg18964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1772335, nssv1772337, nssv1772340, nssv1772334, nssv1772333, nssv1772339, nssv1772332, nssv1772338, nssv1772336, nssv1772331
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM73A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946007
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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