A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963769



Internal ID18599009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207753901..207756045hg38UCSC Ensembl
Innerchr2:208618625..208620769hg19UCSC Ensembl
Innerchr2:208326870..208329014hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382145
hg192145
hg182145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2219603, nssv2219602, nssv2219607, nssv2219600, nssv2219608, nssv2219601, nssv2219604, nssv2219599, nssv2219605, nssv2219606
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCNYL1, MIR4775
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963769
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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