A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976654



Internal ID18265174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120245338..120247765hg38UCSC Ensembl
Innerchr12:120683141..120685568hg19UCSC Ensembl
Innerchr12:119167524..119169951hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382428
hg192428
hg182428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1946594, nssv1946603, nssv1946597, nssv1946595, nssv1946602, nssv1946596, nssv1946600, nssv1946601, nssv1946598, nssv1946599
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPXN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976654
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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