A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946437



Internal ID18593287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158194895..158196741hg38UCSC Ensembl
Innerchr1:158164685..158166531hg19UCSC Ensembl
Innerchr1:156431309..156433155hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802258, nssv1802256, nssv1802257, nssv1802259, nssv1802570, nssv1802571, nssv1802568, nssv1802255, nssv1802572, nssv1802569
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946437
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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