A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946461



Internal ID18593311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161402715..161415157hg38UCSC Ensembl
Innerchr1:161372505..161384947hg19UCSC Ensembl
Innerchr1:159639129..159651571hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3812443
hg1912443
hg1812443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802844, nssv1802842, nssv1802837, nssv1802841, nssv1802838, nssv1802845, nssv1802843, nssv1802836, nssv1802840, nssv1802839
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)nsv946461
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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