A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945982



Internal ID18246146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65152931..65154711hg38UCSC Ensembl
Innerchr1:65618614..65620394hg19UCSC Ensembl
Innerchr1:65391202..65392982hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381781
hg191781
hg181781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1769972, nssv1769976, nssv1769974, nssv1769973, nssv1769978, nssv1769977, nssv1769980, nssv1769979, nssv1769981, nssv1769975
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAK4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945982
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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