A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976655



Internal ID18611861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123548333..123550737hg38UCSC Ensembl
Innerchr12:124032880..124035284hg19UCSC Ensembl
Innerchr12:122598833..122601237hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382405
hg192405
hg182405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1947861, nssv1947859, nssv1947858, nssv1947864, nssv1947867, nssv1947860, nssv1947863, nssv1947866, nssv1947862, nssv1947865
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976655
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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