A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976585



Internal ID18265105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21446588..21448649hg38UCSC Ensembl
Innerchr12:21599522..21601583hg19UCSC Ensembl
Innerchr12:21490789..21492850hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382062
hg192062
hg182062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919881, nssv1919879, nssv1920941, nssv1919880, nssv1920943, nssv1920942, nssv1919882, nssv1920940, nssv1919883, nssv1920944
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPYROXD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976585
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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