A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946009



Internal ID18246173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78309812..78317254hg38UCSC Ensembl
Innerchr1:78775496..78782938hg19UCSC Ensembl
Innerchr1:78548084..78555526hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387443
hg197443
hg187443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1772532, nssv1772529, nssv1772525, nssv1772533, nssv1772528, nssv1772527, nssv1772530, nssv1772531, nssv1772534, nssv1772526
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMGC27382
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946009
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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