A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948028



Internal ID18594874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:58714825..58718609hg38UCSC Ensembl
Innerchr10:60474585..60478369hg19UCSC Ensembl
Innerchr10:60144591..60148375hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383785
hg193785
hg183785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1851455, nssv1851451, nssv1851458, nssv1851452, nssv1851457, nssv1851456, nssv1851454, nssv1851453, nssv1851459, nssv1851450
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBICC1, FAM133CP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948028
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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