A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946567



Internal ID18593417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197735681..197736271hg38UCSC Ensembl
Innerchr1:197704811..197705401hg19UCSC Ensembl
Innerchr1:195971434..195972024hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811985, nssv1811988, nssv1811993, nssv1811992, nssv1811989, nssv1811984, nssv1811990, nssv1811987, nssv1811986, nssv1811991
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDENND1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946567
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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