A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976592



Internal ID18265112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27654978..27656370hg38UCSC Ensembl
Innerchr12:27807911..27809303hg19UCSC Ensembl
Innerchr12:27699178..27700570hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381393
hg191393
hg181393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1920795, nssv1920789, nssv1920791, nssv1920790, nssv1920798, nssv1920793, nssv1920792, nssv1920794, nssv1920796, nssv1920797
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPPFIBP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976592
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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