A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976581



Internal ID18265101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14786732..14787685hg38UCSC Ensembl
Innerchr12:14939666..14940619hg19UCSC Ensembl
Innerchr12:14830933..14831886hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38954
hg19954
hg18954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1917909, nssv1917912, nssv1917910, nssv1917916, nssv1917908, nssv1917907, nssv1917915, nssv1917911, nssv1917913, nssv1917914
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWBP11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976581
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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