A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963760



Internal ID18252314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201761683..201763839hg38UCSC Ensembl
Innerchr2:202626406..202628562hg19UCSC Ensembl
Innerchr2:202334651..202336807hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382157
hg192157
hg182157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217655, nssv2217654, nssv2217653, nssv2217660, nssv2217659, nssv2217651, nssv2217656, nssv2217658, nssv2217657, nssv2217652
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963760
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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