A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946565



Internal ID18593415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197133661..197139103hg38UCSC Ensembl
Innerchr1:197102791..197108233hg19UCSC Ensembl
Innerchr1:195369414..195374856hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg385443
hg195443
hg185443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811181, nssv1811175, nssv2605117, nssv2605115, nssv1811183, nssv1811179, nssv2605114, nssv1811182, nssv1811177, nssv2605119, nssv2605120, nssv1811176, nssv2605113, nssv2605116, nssv2605118, nssv1811174, nssv1811180, nssv2605121, nssv1811178, nssv2605122
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesASPM
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946565
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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