A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945331



Internal ID18592182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226186677..226189813hg38UCSC Ensembl
Innerchr1:226374378..226377514hg19UCSC Ensembl
Innerchr1:224441001..224444137hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg383137
hg193137
hg183137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1820406, nssv1820411, nssv1821338, nssv1821336, nssv1820407, nssv1821337, nssv1820409, nssv1820408, nssv1820410, nssv1820405
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACBD3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945331
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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