A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978974



Internal ID18614177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3580767..3581799hg38UCSC Ensembl
Innerchr2:3628357..3629389hg19UCSC Ensembl
Innerchr2:3606232..3607264hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381033
hg191033
hg181033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2161963, nssv2161968, nssv2161961, nssv2161970, nssv2161965, nssv2161967, nssv2161969, nssv2161966, nssv2161964, nssv2161962
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978974
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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