A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963776



Internal ID18599016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222646402..222647505hg38UCSC Ensembl
Innerchr2:223511121..223512224hg19UCSC Ensembl
Innerchr2:223219365..223220468hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381104
hg191104
hg181104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2222209, nssv2222218, nssv2222216, nssv2222215, nssv2222214, nssv2222213, nssv2222211, nssv2222217, nssv2222210, nssv2222212
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFARSB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963776
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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