A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973005



Internal ID18608220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5927909..5930324hg38UCSC Ensembl
Innerchr12:6037075..6039490hg19UCSC Ensembl
Innerchr12:5907336..5909751hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911319, nssv1911322, nssv1911320, nssv1911325, nssv1911324, nssv1911328, nssv1911327, nssv1911321, nssv1911326, nssv1911323
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANO2
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973005
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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