A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983270



Internal ID18618464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8189663..8209643hg38UCSC Ensembl
Innerchr12:8342259..8362239hg19UCSC Ensembl
Innerchr12:8233526..8253506hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3819981
hg1919981
hg1819981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1913214, nssv1913215, nssv1913210, nssv1913213, nssv1913209, nssv1913218, nssv1913217, nssv1913212, nssv1913211, nssv1913216
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM66C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983270
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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