A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979178



Internal ID18614381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222452181..222454181hg38UCSC Ensembl
Innerchr2:223316900..223318900hg19UCSC Ensembl
Innerchr2:223025144..223027144hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382001
hg192001
hg182001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2222118, nssv2222115, nssv2222121, nssv2222117, nssv2222112, nssv2222114, nssv2222120, nssv2222119, nssv2222116, nssv2222113
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSGPP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979178
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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