A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945411



Internal ID18592262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242375143..242378997hg38UCSC Ensembl
Innerchr1:242538445..242542299hg19UCSC Ensembl
Innerchr1:240605068..240608922hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383855
hg193855
hg183855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1826390, nssv1826382, nssv1826388, nssv1826386, nssv1826387, nssv1826385, nssv1826391, nssv1826389, nssv1826384, nssv1826383
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLD5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945411
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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