A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975465



Internal ID18263987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29303549..29309695hg38UCSC Ensembl
Innerchr12:29456482..29462628hg19UCSC Ensembl
Innerchr12:29347749..29353895hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386147
hg196147
hg186147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1921795, nssv1921796, nssv1921794, nssv1921797, nssv1921792, nssv1921789, nssv1921793, nssv1921790, nssv1921798, nssv1921791
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAR2, LOC100506606
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975465
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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