A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946485



Internal ID18593335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:166744158..166748341hg38UCSC Ensembl
Innerchr1:166713395..166717578hg19UCSC Ensembl
Innerchr1:164980019..164984202hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg384184
hg194184
hg184184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804838, nssv1804841, nssv1804840, nssv1804843, nssv1804837, nssv1804842, nssv1804836, nssv1804835, nssv1804839, nssv1804834
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)nsv946485
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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