A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979006



Internal ID18614209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:58250378..58253831hg38UCSC Ensembl
Innerchr2:58477513..58480966hg19UCSC Ensembl
Innerchr2:58331017..58334470hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383454
hg193454
hg183454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2172925, nssv2172923, nssv2172929, nssv2172922, nssv2172926, nssv2172924, nssv2172921, nssv2172928, nssv2172920, nssv2172927
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979006
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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