A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946102



Internal ID18592952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101879984..101882529hg38UCSC Ensembl
Innerchr1:102345540..102348085hg19UCSC Ensembl
Innerchr1:102118128..102120673hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg382546
hg192546
hg182546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1780473, nssv1780468, nssv1780474, nssv1780467, nssv1780471, nssv1780469, nssv1780472, nssv1780465, nssv1780466, nssv1780470
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAJA1P5, MIR548AI, OLFM3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946102
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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