A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976653



Internal ID18265173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120200045..120201198hg38UCSC Ensembl
Innerchr12:120637848..120639001hg19UCSC Ensembl
Innerchr12:119122231..119123384hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381154
hg191154
hg181154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1946371, nssv1946506, nssv1946373, nssv1946374, nssv1946369, nssv1946505, nssv1946370, nssv1946372, nssv1946376, nssv1946375
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPLP0
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976653
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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