A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973101



Internal ID18608316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93082858..93084422hg38UCSC Ensembl
Innerchr12:93476634..93478198hg19UCSC Ensembl
Innerchr12:92000765..92002329hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381565
hg191565
hg181565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1940889, nssv1940893, nssv1940892, nssv1940894, nssv1940895, nssv1940890, nssv1940897, nssv1940891, nssv1940896, nssv1940898
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC643339
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973101
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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