A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946006



Internal ID18592856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77810130..77812716hg38UCSC Ensembl
Innerchr1:78275815..78278401hg19UCSC Ensembl
Innerchr1:78048403..78050989hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382587
hg192587
hg182587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771317, nssv1771316, nssv1771315, nssv1771318, nssv1771313, nssv1771319, nssv1771314, nssv1771312, nssv1771311, nssv1771310
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)nsv946006
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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