A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963768



Internal ID18599008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206161279..206162903hg38UCSC Ensembl
Innerchr2:207026003..207027627hg19UCSC Ensembl
Innerchr2:206734248..206735872hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381625
hg191625
hg181625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2219412, nssv2219405, nssv2219406, nssv2219407, nssv2219413, nssv2219410, nssv2219408, nssv2219414, nssv2219409, nssv2219411
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEEF1B2, SNORA41, SNORD51
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963768
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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