A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973021



Internal ID18608236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9236813..9240840hg38UCSC Ensembl
Innerchr12:9389409..9393436hg19UCSC Ensembl
Innerchr12:9280676..9284703hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384028
hg194028
hg184028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1914709, nssv1914704, nssv1914707, nssv1914712, nssv1914705, nssv1914710, nssv1914713, nssv1914711, nssv1914708, nssv1914706
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC00987, MIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973021
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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