A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983300



Internal ID18271808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31074788..31077366hg38UCSC Ensembl
Innerchr12:31227722..31230300hg19UCSC Ensembl
Innerchr12:31118989..31121567hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382579
hg192579
hg182579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1921708, nssv1921713, nssv1921706, nssv1921711, nssv1921705, nssv1921707, nssv1921712, nssv1921709, nssv1921710, nssv1921714
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDDX11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983300
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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